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1. Thermodynamics of calcined clays used in cementitious binders:origin to service life considerations

Author: Hanein, T. (Theodore), Nguyen, H. (Hoang), Provis, J. L. (John L.), Utton, C. (Claire), Kunther, W. (Wolfgang), Hanein, T. (Theodore), Nguyen, H. (Hoang), Provis, J. L. (John L.), Utton, C. (Claire), and Kunther, W. (Wolfgang)
Abstract: The use of calcined clays in construction materials has attracted significant attention in the last few years. Based on the continued need for sustainable construction to meet global development challenges, the green transition of the cement industry is an urgent necessity. The use of clay-blended cements will keep increasing to meet the need for mass quantities of materials and the prospect of reducing their embodied CO₂, as traditional supplementary cementitious materials are expected to decline in availability. To enable the necessary rapid increase in the fraction of clays that can be used in cements, the use of modeling tools which provide insights into the clays and their reactivity in cementitious systems is of increased interest. The aim is to predict the properties of the calcined clays based on the original rock and calcination conditions, the phase evolution, material properties, and durability of construction materials. This is crucial to reduce the time needed for development and commercialisation, whereas extensive empirical work has been used in the past to achieve material transition in the construction sector, which can be extremely time consuming. This review article therefore aims to provide an overview of available thermodynamic data, issues with database integration, modelling of process parameters, and properties prediction for cementitious materials.
Published: 2023

2. Common Genetic Variation and Age of Onset of Anorexia Nervosa

Author: Watson, Hunna J., Thornton, Laura M., Yilmaz, Zeynep, Baker, Jessica H., Coleman, Jonathan R.I., Adan, Roger A.H., Alfredsson, Lars, Andreassen, Ole A., Ask, Helga, Berrettini, Wade H., Boehnke, Michael, Boehm, Ilka, Boni, Claudette, Buehren, Katharina, Bulant, Josef, Burghardt, Roland, Chang, Xiao, Cichon, Sven, Cone, Roger D., Courtet, Philippe, Crow, Scott, Crowley, James J., Danner, Unna N., de Zwaan, Martina, Dedoussis, George, DeSocio, Janiece E., Dick, Danielle M., Dikeos, Dimitris, Dina, Christian, Djurovic, Srdjan, Dmitrzak-Weglarz, Monika, Docampo-Martinez, Elisa, Duriez, Philibert, Egberts, Karin, Ehrlich, Stefan, Eriksson, Johan G., Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Fernández-Aranda, Fernando, Fichter, Manfred M., Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J., Frei, Oleksandr, Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Gratacòs, Mònica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hauser, Joanna, Havdahl, Alexandra, Hebebrand, Johannes, Helder, Sietske G., Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Hübel, Christopher, Hudson, James I., Imgart, Hartmut, Jamain, Stephanie, Janout, Vladimir, Jiménez-Murcia, Susana, Jones, Ian R., Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Kaprio, Jaakko, Karhunen, Leila, Kas, Martien J.H., Keel, Pamela K., Kennedy, James L., Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Klareskog, Lars, Klump, Kelly L., Knudsen, Gun Peggy S., La Via, Maria C., Le Hellard, Stephanie, Leboyer, Marion, Li, Dong, Lilenfeld, Lisa, Lin, Bochao, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre, Maj, Mario, Marsal, Sara, Marshall, Christian R., Mattingsdal, Morten, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen S., Monteleone, Alessio Maria, Monteleone, Palmiero, Myers, Richard, Navratilova, Marie, Ntalla, Ionna, O'Toole, Julie K., Ophoff, Roel A., Padyukov, Leonid, Pantel, Jacques, Papežová, Hana, Pinto, Dalila, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ripke, Stephan, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Scherag, André, Scherer, Stephen W., Schmidt, Ulrike, Scott, Laura J., Seitz, Jochen, Silén, Yasmina, Šlachtová, Lenka, Slagboom, P. Eline, Slof-Op ‘t Landt, Margarita C.T., Slopien, Agnieszka, Sorbi, Sandro, Świątkowska, Beata, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie A., van Furth, Eric F., Walton, Esther, Widen, Elisabeth, Zerwas, Stephanie, Zipfel, Stephan, Bergen, Andrew W., Boden, Joseph M., Brandt, Harry, Crawford, Steven, Halmi, Katherine A., Horwood, L. John, Johnson, Craig, Kaplan, Allan S., Kaye, Walter H., Mitchell, James E., Olsen, Catherine M., Pearson, John F., Pedersen, Nancy L., Strober, Michael, Werge, Thomas, Whiteman, David C., Woodside, D. Blake, Gordon, Scott, Maguire, Sarah, Larsen, Janne T., Parker, Richard, Petersen, Liselotte V., Jordan, Jennifer, Kennedy, Martin, Wade, Tracey D., Birgegård, Andreas, Lichtenstein, Paul, Landén, Mikael, Martin, Nicholas G., Mortensen, Preben Bo, Breen, Gerome, Bulik, Cynthia M., Watson, Hunna J., Thornton, Laura M., Yilmaz, Zeynep, Baker, Jessica H., Coleman, Jonathan R.I., Adan, Roger A.H., Alfredsson, Lars, Andreassen, Ole A., Ask, Helga, Berrettini, Wade H., Boehnke, Michael, Boehm, Ilka, Boni, Claudette, Buehren, Katharina, Bulant, Josef, Burghardt, Roland, Chang, Xiao, Cichon, Sven, Cone, Roger D., Courtet, Philippe, Crow, Scott, Crowley, James J., Danner, Unna N., de Zwaan, Martina, Dedoussis, George, DeSocio, Janiece E., Dick, Danielle M., Dikeos, Dimitris, Dina, Christian, Djurovic, Srdjan, Dmitrzak-Weglarz, Monika, Docampo-Martinez, Elisa, Duriez, Philibert, Egberts, Karin, Ehrlich, Stefan, Eriksson, Johan G., Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Fernández-Aranda, Fernando, Fichter, Manfred M., Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J., Frei, Oleksandr, Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Gratacòs, Mònica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hauser, Joanna, Havdahl, Alexandra, Hebebrand, Johannes, Helder, Sietske G., Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Hübel, Christopher, Hudson, James I., Imgart, Hartmut, Jamain, Stephanie, Janout, Vladimir, Jiménez-Murcia, Susana, Jones, Ian R., Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Kaprio, Jaakko, Karhunen, Leila, Kas, Martien J.H., Keel, Pamela K., Kennedy, James L., Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Klareskog, Lars, Klump, Kelly L., Knudsen, Gun Peggy S., La Via, Maria C., Le Hellard, Stephanie, Leboyer, Marion, Li, Dong, Lilenfeld, Lisa, Lin, Bochao, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre, Maj, Mario, Marsal, Sara, Marshall, Christian R., Mattingsdal, Morten, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen S., Monteleone, Alessio Maria, Monteleone, Palmiero, Myers, Richard, Navratilova, Marie, Ntalla, Ionna, O'Toole, Julie K., Ophoff, Roel A., Padyukov, Leonid, Pantel, Jacques, Papežová, Hana, Pinto, Dalila, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ripke, Stephan, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Scherag, André, Scherer, Stephen W., Schmidt, Ulrike, Scott, Laura J., Seitz, Jochen, Silén, Yasmina, Šlachtová, Lenka, Slagboom, P. Eline, Slof-Op ‘t Landt, Margarita C.T., Slopien, Agnieszka, Sorbi, Sandro, Świątkowska, Beata, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie A., van Furth, Eric F., Walton, Esther, Widen, Elisabeth, Zerwas, Stephanie, Zipfel, Stephan, Bergen, Andrew W., Boden, Joseph M., Brandt, Harry, Crawford, Steven, Halmi, Katherine A., Horwood, L. John, Johnson, Craig, Kaplan, Allan S., Kaye, Walter H., Mitchell, James E., Olsen, Catherine M., Pearson, John F., Pedersen, Nancy L., Strober, Michael, Werge, Thomas, Whiteman, David C., Woodside, D. Blake, Gordon, Scott, Maguire, Sarah, Larsen, Janne T., Parker, Richard, Petersen, Liselotte V., Jordan, Jennifer, Kennedy, Martin, Wade, Tracey D., Birgegård, Andreas, Lichtenstein, Paul, Landén, Mikael, Martin, Nicholas G., Mortensen, Preben Bo, Breen, Gerome, and Bulik, Cynthia M.
Abstract: Background Genetics and biology may influence the age of onset of anorexia nervosa (AN). The aims of this study were to determine whether common genetic variation contributes to age of onset of AN and to investigate the genetic associations between age of onset of AN and age at menarche. Methods A secondary analysis of the Psychiatric Genomics Consortium genome-wide association study (GWAS) of AN was performed, which included 9335 cases and 31,981 screened controls, all from European ancestries. We conducted GWASs of age of onset, early-onset AN (<13 years), and typical-onset AN, and genetic correlation, genetic risk score, and Mendelian randomization analyses. Results Two loci were genome-wide significant in the typical-onset AN GWAS. Heritability estimates (single nucleotide polymorphism–h2) were 0.01–0.04 for age of onset, 0.16–0.25 for early-onset AN, and 0.17–0.25 for typical-onset AN. Early- and typical-onset AN showed distinct genetic correlation patterns with putative risk factors for AN. Specifically, early-onset AN was significantly genetically correlated with younger age at menarche, and typical-onset AN was significantly negatively genetically correlated with anthropometric traits. Genetic risk scores for age of onset and early-onset AN estimated from independent GWASs significantly predicted age of onset. Mendelian randomization analysis suggested a causal link between younger age at menarche and early-onset AN. Conclusions Our results provide evidence consistent with a common variant genetic basis for age of onset and implicate biological pathways regulating menarche and reproduction., Background: Genetics and biology may influence the age of onset of anorexia nervosa (AN). The aims of this study were to determine whether common genetic variation contributes to age of onset of AN and to investigate the genetic associations between age of onset of AN and age at menarche. Methods: A secondary analysis of the Psychiatric Genomics Consortium genome-wide association study (GWAS) of AN was performed, which included 9335 cases and 31,981 screened controls, all from European ancestries. We conducted GWASs of age of onset, early-onset AN (<13 years), and typical-onset AN, and genetic correlation, genetic risk score, and Mendelian randomization analyses. Results: Two loci were genome-wide significant in the typical-onset AN GWAS. Heritability estimates (single nucleotide polymorphism–h2) were 0.01–0.04 for age of onset, 0.16–0.25 for early-onset AN, and 0.17–0.25 for typical-onset AN. Early- and typical-onset AN showed distinct genetic correlation patterns with putative risk factors for AN. Specifically, early-onset AN was significantly genetically correlated with younger age at menarche, and typical-onset AN was significantly negatively genetically correlated with anthropometric traits. Genetic risk scores for age of onset and early-onset AN estimated from independent GWASs significantly predicted age of onset. Mendelian randomization analysis suggested a causal link between younger age at menarche and early-onset AN. Conclusions: Our results provide evidence consistent with a common variant genetic basis for age of onset and implicate biological pathways regulating menarche and reproduction.
Published: 2022

3. Characterization of an aged alkali-activated slag roof tile after 30 years of exposure to Northern Scandinavian weather

Author: Luukkonen, T. (Tero), Yliniemi, J. (Juho), Walkley, B. (Brant), Geddes, D. (Daniel), Griffith, B. (Ben), Hanna, J. V. (John V.), Provis, J. L. (John L.), Kinnunen, P. (Päivö), Illikainen, M. (Mirja), Luukkonen, T. (Tero), Yliniemi, J. (Juho), Walkley, B. (Brant), Geddes, D. (Daniel), Griffith, B. (Ben), Hanna, J. V. (John V.), Provis, J. L. (John L.), Kinnunen, P. (Päivö), and Illikainen, M. (Mirja)
Abstract: Alkali-activated materials (AAMs) have been known as an alternative cementitious binder in construction for more than 120 years. Several buildings utilizing AAMs were realized in Europe in the 1950s–1980s. During the last 30 years, the interest towards AAMs has been reinvigorated due to the potentially lower CO₂ footprint in comparison to Portland cement. However, one often-raised issue with AAMs is the lack of long-term studies concerning durability in realistic conditions. In the present study, we examined a roof tile, which was prepared from alkali-activated blast furnace slag mortar and exposed to harsh Northern Scandinavian weather conditions in Turku, Finland, for approximately 30 years. Characterization of this roof tile provides unique and crucial information about the changes occurring during AAM lifetime. The results obtained with a suite of analytical techniques indicate that the roof tile had maintained excellent durability properties with little sign of structural disintegration in real-life living lab conditions, and thus provide in part assurance that AAM-based binders can be safely adopted in harsh climates. The phase assemblage and nanostructural characterization results reported here further elucidate the long-term changes occurring in AAMs and provide reference points for accelerated durability tests and thermodynamic modelling.
Published: 2022

4. Common variants in breast cancer risk loci predispose to distinct tumor subtypes

Author: Ahearn, T. U. (Thomas U.), Zhang, H. (Haoyu), Michailidou, K. (Kyriaki), Milne, R. L. (Roger L.), Bolla, M. K. (Manjeet K.), Dennis, J. (Joe), Dunning, A. M. (Alison M.), Lush, M. (Michael), Wang, Q. (Qin), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Auer, P. L. (Paul L.), Augustinsson, A. (Annelie), Baten, A. (Adinda), Becher, H. (Heiko), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brooks-Wilson, A. (Angela), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Buys, S. S. (Saundra S.), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Clarke, C. L. (Christine L.), Collee, J. M. (J. Margriet), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Dork, T. (Thilo), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Floris, G. (Giuseppe), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Guenel, P. (Pascal), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Harkness, E. F. (Elaine F.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Holleczek, B. (Bernd), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Jakimovska, M. (Milena), Jakubowska, A. (Anna), John, E. M. (Esther M.), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kauppila, S. (Saila), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Ko, Y.-D. (Yon-Dschun), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kubelka-Sabit, K. (Katerina), Kurian, A. W. (Allison W.), Kyriacou, K. (Kyriacos), Lambrechts, D. (Diether), Lee, D. G. (Derrick G.), Lindblom, A. (Annika), Linet, M. (Martha), Lissowska, J. (Jolanta), Llaneza, A. (Ana), Lo, W.-Y. (Wing-Yee), MacInnis, R. J. (Robert J.), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), McLean, C. (Catriona), Meindl, A. (Alfons), Menon, U. (Usha), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nodora, J. (Jesse), Offit, K. (Kenneth), Olsson, H. (Hakan), Orr, N. (Nick), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa, V), Peto, J. (Julian), Pita, G. (Guillermo), Plaseska-Karanfilska, D. (Dijana), Prentice, R. (Ross), Punie, K. (Kevin), Pylkas, K. (Katri), Radice, P. (Paolo), Rennert, G. (Gad), Romero, A. (Atocha), Ruediger, T. (Thomas), Saloustros, E. (Emmanouil), Sampson, S. (Sarah), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schoemaker, M. J. (Minouk J.), Schottker, B. (Ben), Sherman, M. E. (Mark E.), Shu, X.-O. (Xiao-Ou), Smichkoska, S. (Snezhana), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Torres, D. (Diana), Troester, M. A. (Melissa A.), Vachon, C. M. (Celine M.), van Deurzen, C. H. (Carolien H. M.), van Veen, E. M. (Elke M.), Wagner, P. (Philippe), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Wesseling, J. (Jelle), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Zheng, W. (Wei), Couch, F. J. (Fergus J.), Simard, J. (Jacques), Kraft, P. (Peter), Easton, D. F. (Douglas F.), Pharoah, P. D. (Paul D. P.), Schmidt, M. K. (Marjanka K.), Garcia-Closas, M. (Montserrat), Chatterjee, N. (Nilanjan), Ahearn, T. U. (Thomas U.), Zhang, H. (Haoyu), Michailidou, K. (Kyriaki), Milne, R. L. (Roger L.), Bolla, M. K. (Manjeet K.), Dennis, J. (Joe), Dunning, A. M. (Alison M.), Lush, M. (Michael), Wang, Q. (Qin), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Auer, P. L. (Paul L.), Augustinsson, A. (Annelie), Baten, A. (Adinda), Becher, H. (Heiko), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brooks-Wilson, A. (Angela), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Buys, S. S. (Saundra S.), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Clarke, C. L. (Christine L.), Collee, J. M. (J. Margriet), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Dork, T. (Thilo), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Floris, G. (Giuseppe), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Guenel, P. (Pascal), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Harkness, E. F. (Elaine F.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Holleczek, B. (Bernd), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Jakimovska, M. (Milena), Jakubowska, A. (Anna), John, E. M. (Esther M.), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kauppila, S. (Saila), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Ko, Y.-D. (Yon-Dschun), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kubelka-Sabit, K. (Katerina), Kurian, A. W. (Allison W.), Kyriacou, K. (Kyriacos), Lambrechts, D. (Diether), Lee, D. G. (Derrick G.), Lindblom, A. (Annika), Linet, M. (Martha), Lissowska, J. (Jolanta), Llaneza, A. (Ana), Lo, W.-Y. (Wing-Yee), MacInnis, R. J. (Robert J.), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), McLean, C. (Catriona), Meindl, A. (Alfons), Menon, U. (Usha), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nodora, J. (Jesse), Offit, K. (Kenneth), Olsson, H. (Hakan), Orr, N. (Nick), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa, V), Peto, J. (Julian), Pita, G. (Guillermo), Plaseska-Karanfilska, D. (Dijana), Prentice, R. (Ross), Punie, K. (Kevin), Pylkas, K. (Katri), Radice, P. (Paolo), Rennert, G. (Gad), Romero, A. (Atocha), Ruediger, T. (Thomas), Saloustros, E. (Emmanouil), Sampson, S. (Sarah), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schoemaker, M. J. (Minouk J.), Schottker, B. (Ben), Sherman, M. E. (Mark E.), Shu, X.-O. (Xiao-Ou), Smichkoska, S. (Snezhana), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Torres, D. (Diana), Troester, M. A. (Melissa A.), Vachon, C. M. (Celine M.), van Deurzen, C. H. (Carolien H. M.), van Veen, E. M. (Elke M.), Wagner, P. (Philippe), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Wesseling, J. (Jelle), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Zheng, W. (Wei), Couch, F. J. (Fergus J.), Simard, J. (Jacques), Kraft, P. (Peter), Easton, D. F. (Douglas F.), Pharoah, P. D. (Paul D. P.), Schmidt, M. K. (Marjanka K.), Garcia-Closas, M. (Montserrat), and Chatterjee, N. (Nilanjan)
Abstract: Background: Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these variants relate with other tumor features and intrinsic molecular subtypes is unclear. Methods: Among 106,571 invasive breast cancer cases and 95,762 controls of European ancestry with data on 173 breast cancer variants identified in previous GWAS, we used novel two-stage polytomous logistic regression models to evaluate variants in relation to multiple tumor features (ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and grade) adjusting for each other, and to intrinsic-like subtypes. Results: Eighty-five of 173 variants were associated with at least one tumor feature (false discovery rate < 5%), most commonly ER and grade, followed by PR and HER2. Models for intrinsic-like subtypes found nearly all of these variants (83 of 85) associated at p < 0.05 with risk for at least one luminal-like subtype, and approximately half (41 of 85) of the variants were associated with risk of at least one non-luminal subtype, including 32 variants associated with triple-negative (TN) disease. Ten variants were associated with risk of all subtypes in different magnitude. Five variants were associated with risk of luminal A-like and TN subtypes in opposite directions. Conclusion: This report demonstrates a high level of complexity in the etiology heterogeneity of breast cancer susceptibility variants and can inform investigations of subtype-specific risk prediction.
Published: 2022

5. Rare germline copy number variants (CNVs) and breast cancer risk

Author: Dennis, J. (Joe), Tyrer, J. P. (Jonathan P.), Walker, L. C. (Logan C.), Michailidou, K. (Kyriaki), Dorling, L. (Leila), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Freeman, L. E. (Laura E. Beane), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Brenner, H. (Hermann), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chenevix-Trench, G. (Georgia), Clarke, C. L. (Christine L.), N. C. (NBCS Collaborators), Collee, J. M. (J. Margriet), C. C. (CTS Consortium), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Devilee, P. (Peter), Dörk, T. (Thilo), Dossus, L. (Laure), Eliassen, A. H. (A. Heather), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fritschi, L. (Lin), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Garcia-Closas, M. (Montserrat), Giles, G. G. (Graham G.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hollestelle, A. (Antoinette), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Howell, A. (Anthony), A. I. (ABCTB Investigators), k. I. (kConFab/AOCS Investigators), Jager, A. (Agnes), Jakubowska, A. (Anna), John, E. M. (Esther M.), Johnson, N. (Nichola), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Ko, Y.-D. (Yon-Dschun), Kosma, V.-M. (Veli-Matti), Koutros, S. (Stella), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kubelka-Sabit, K. (Katerina), Kurian, A. W. (Allison W.), Lacey, J. V. (James, V), Lambrechts, D. (Diether), Larson, N. L. (Nicole L.), Linet, M. (Martha), Ogrodniczak, A. (Alicja), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Mavroudis, D. (Dimitrios), Milne, R. L. (Roger L.), Muranen, T. A. (Taru A.), Murphy, R. A. (Rachel A.), Nevanlinna, H. (Heli), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Park-Simon, T.-W. (Tjoung-Won), Perou, C. M. (Charles M.), Peterlongo, P. (Paolo), Plaseska-Karanfilska, D. (Dijana), Pylkas, K. (Katri), Rennert, G. (Gad), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Shibli, R. (Rana), Smeets, A. (Ann), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Taylor, J. A. (Jack A.), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Vachon, C. M. (Celine M.), Wendt, C. (Camilla), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Zheng, W. (Wei), Ziogas, A. (Argyrios), Simard, J. (Jacques), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Dennis, J. (Joe), Tyrer, J. P. (Jonathan P.), Walker, L. C. (Logan C.), Michailidou, K. (Kyriaki), Dorling, L. (Leila), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Freeman, L. E. (Laura E. Beane), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Brenner, H. (Hermann), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chenevix-Trench, G. (Georgia), Clarke, C. L. (Christine L.), N. C. (NBCS Collaborators), Collee, J. M. (J. Margriet), C. C. (CTS Consortium), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Devilee, P. (Peter), Dörk, T. (Thilo), Dossus, L. (Laure), Eliassen, A. H. (A. Heather), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fritschi, L. (Lin), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Garcia-Closas, M. (Montserrat), Giles, G. G. (Graham G.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hollestelle, A. (Antoinette), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Howell, A. (Anthony), A. I. (ABCTB Investigators), k. I. (kConFab/AOCS Investigators), Jager, A. (Agnes), Jakubowska, A. (Anna), John, E. M. (Esther M.), Johnson, N. (Nichola), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Ko, Y.-D. (Yon-Dschun), Kosma, V.-M. (Veli-Matti), Koutros, S. (Stella), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kubelka-Sabit, K. (Katerina), Kurian, A. W. (Allison W.), Lacey, J. V. (James, V), Lambrechts, D. (Diether), Larson, N. L. (Nicole L.), Linet, M. (Martha), Ogrodniczak, A. (Alicja), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Mavroudis, D. (Dimitrios), Milne, R. L. (Roger L.), Muranen, T. A. (Taru A.), Murphy, R. A. (Rachel A.), Nevanlinna, H. (Heli), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Park-Simon, T.-W. (Tjoung-Won), Perou, C. M. (Charles M.), Peterlongo, P. (Paolo), Plaseska-Karanfilska, D. (Dijana), Pylkas, K. (Katri), Rennert, G. (Gad), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Shibli, R. (Rana), Smeets, A. (Ann), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Taylor, J. A. (Jack A.), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Vachon, C. M. (Celine M.), Wendt, C. (Camilla), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Zheng, W. (Wei), Ziogas, A. (Argyrios), Simard, J. (Jacques), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), and Easton, D. F. (Douglas F.)
Abstract: Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast cancer cases and 76,122 controls of European ancestry with genome-wide array data. Gene burden tests detected the strongest association for deletions in BRCA1 (P = 3.7E-18). Nine other genes were associated with a p-value < 0.01 including known susceptibility genes CHEK2 (P = 0.0008), ATM (P = 0.002) and BRCA2 (P = 0.008). Outside the known genes we detected associations with p-values < 0.001 for either overall or subtype-specific breast cancer at nine deletion regions and four duplication regions. Three of the deletion regions were in established common susceptibility loci. To the best of our knowledge, this is the first genome-wide analysis of rare CNVs in a large breast cancer case-control dataset. We detected associations with exonic deletions in established breast cancer susceptibility genes. We also detected suggestive associations with non-coding CNVs in known and novel loci with large effects sizes. Larger sample sizes will be required to reach robust levels of statistical significance.
Published: 2022

6. Sustainable iron-rich cements:raw material sources and binder types

Author: Peys, A. (Arne), Isteri, V. (Visa), Yliniemi, J. (Juho), Yorkshire, A. S. (Antonia S.), Lemougna, P. N. (Patrick N.), Utton, C. (Claire), Provis, J. L. (John L.), Snellings, R. (Ruben), Hanein, T. (Theodore), Peys, A. (Arne), Isteri, V. (Visa), Yliniemi, J. (Juho), Yorkshire, A. S. (Antonia S.), Lemougna, P. N. (Patrick N.), Utton, C. (Claire), Provis, J. L. (John L.), Snellings, R. (Ruben), and Hanein, T. (Theodore)
Abstract: The bulk of the cement industry’s environmental burden is from the calcareous source. Calcium is mostly available naturally as limestone (CaCO₃), where almost half of the mass is eventually released as CO₂ during clinker manufacture. Iron (Fe) is the fourth most common element in the Earth’s crust surpassed only by oxygen, silicon, and aluminium; therefore, potential raw materials for alternative cements can contain significant amounts of iron. This review paper discusses in detail the most abundantly available Fe-rich natural resources and industrial by-products and residues, establishing symbiotic supply chains from various sectors. The discussion then focusses on the impact of high iron content in clinker and on ferrite (thermo)chemistry, as well as the importance of iron speciation on its involvement in the reactions as supplementary cementitious material or alkali-activated materials, and the technical quality that can be achieved from sustainable Fe-rich cements.
Published: 2022

7. ADHD symptoms and diagnosis in adult preterms: systematic review, IPD meta-analysis, and register-linkage study

Author: Robinson, R. (Rachel), Girchenko, P. (Polina), Pulakka, A. (Anna), Heinonen, K. (Kati), Lähdepuro, A. (Anna), Lahti-Pulkkinen, M. (Marius), Hovi, P. (Petteri), Tikanmäki, M. (Marjaana), Bartmann, P. (Peter), Lano, A. (Aulikki), Doyle, L. W. (Lex W.), Anderson, P. J. (Peter J.), Cheong, J. L. (Jeanie L. Y.), Darlow, B. A. (Brian A.), Woodward, L. J. (Lianne J.), Horwood, L. J. (L. John), Indredavik, M. S. (Marit S .), Evensen, K. A. (Kari Anne I.), Marlow, N. (Neil), Johnson, S. (Samantha), de Mendonca, M. G. (Marina Goulart), Kajantie, E. (Eero), Wolke, D. (Dieter), Räikkönen, K. (Katri), Robinson, R. (Rachel), Girchenko, P. (Polina), Pulakka, A. (Anna), Heinonen, K. (Kati), Lähdepuro, A. (Anna), Lahti-Pulkkinen, M. (Marius), Hovi, P. (Petteri), Tikanmäki, M. (Marjaana), Bartmann, P. (Peter), Lano, A. (Aulikki), Doyle, L. W. (Lex W.), Anderson, P. J. (Peter J.), Cheong, J. L. (Jeanie L. Y.), Darlow, B. A. (Brian A.), Woodward, L. J. (Lianne J.), Horwood, L. J. (L. John), Indredavik, M. S. (Marit S .), Evensen, K. A. (Kari Anne I.), Marlow, N. (Neil), Johnson, S. (Samantha), de Mendonca, M. G. (Marina Goulart), Kajantie, E. (Eero), Wolke, D. (Dieter), and Räikkönen, K. (Katri)
Abstract: Background: This study examined differences in ADHD symptoms and diagnosis between preterm and term-born adults (≥18 years), and tested if ADHD is related to gestational age, birth weight, multiple births, or neonatal complications in preterm borns. Methods: (1) A systematic review compared ADHD symptom self-reports and diagnosis between preterm and term-born adults published in PubMed, Web of Science, and PROQUEST until April 2021; (2) a one-stage Individual Participant Data(IPD) meta-analysis (n= 1385 preterm, n = 1633 term; born 1978–1995) examined differences in self-reported ADHD symptoms[age 18–36 years]; and (3) a population-based register-linkage study of all live births in Finland (01/01/1987–31/12/1998; n = 37538 preterm, n = 691,616 term) examined ADHD diagnosis risk in adulthood (≥18 years) until 31/12/2016. Results: Systematic review results were conflicting. In the IPD meta-analysis, ADHD symptoms levels were similar across groups (mean z-score difference 0.00;95% confidence interval [95% CI] −0.07, 0.07). Whereas in the register-linkage study, adults born preterm had a higher relative risk (RR) for ADHD diagnosis compared to term controls (RR = 1.26, 95% CI 1.12, 1.41, p < 0.001). Among preterms, as gestation length (RR = 0.93, 95% CI 0.89, 0.97, p < 0.001) and SD birth weight z-score (RR = 0.88, 95% CI 0.80, 0.97, p < 0.001) increased, ADHD risk decreased. Conclusions: While preterm adults may not report higher levels of ADHD symptoms, their risk of ADHD diagnosis in adulthood is higher.
Published: 2022

8. John L., letters (1962-1964)

Author: L., John, recipient, L., John; Legg, W. Dorr; Lambert, William, L., John, recipient, and L., John; Legg, W. Dorr; Lambert, William
Abstract: John L., membership, orders and letters (1962-1964)
Published: 2019

9. John H. Lawson, letters (1954-1967)

Author: Freeman, David, recipient; L., John, recipient; Lambert, William, recipient; Legg, W. Dorr, recipient; Jim, recipient; Slater, Don, recipient; P., Donald, recipient, Jennings, Dale; L., John; Freeman, David; Boyfrank, Manuel; Knudson, Evelyn; Bonham, Lewis, Freeman, David, recipient; L., John, recipient; Lambert, William, recipient; Legg, W. Dorr, recipient; Jim, recipient; Slater, Don, recipient; P., Donald, recipient, and Jennings, Dale; L., John; Freeman, David; Boyfrank, Manuel; Knudson, Evelyn; Bonham, Lewis
Abstract: John H. (Jon) Lawson, letters, subscription drive, donations, notes, and ONE Inc.'s legal dispute with Don Slater (1954-1967)
Published: 2019

10. Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

Author: Munn-Chernoff, Melissa A, Johnson, Emma C, Chou, Yi-Ling, Coleman, Jonathan R I, Thornton, Laura M, Walters, Raymond K, Yilmaz, Zeynep, Baker, Jessica H, Hübel, Christopher, Gordon, Scott, Medland, Sarah E, Watson, Hunna J, Gaspar, Héléna A, Bryois, Julien, Hinney, Anke, Leppä, Virpi M, Mattheisen, Manuel, Ripke, Stephan, Yao, Shuyang, Giusti-Rodríguez, Paola, Hanscombe, Ken B, Adan, Roger A H, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole A, Berrettini, Wade H, Boehm, Ilka, Boni, Claudette, Boraska Perica, Vesna, Buehren, Katharina, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Cone, Roger D, Courtet, Philippe, Crow, Scott, Crowley, James J, Danner, Unna N, Davis, Oliver S P, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece E, Dick, Danielle M, Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Duncan, Laramie E, Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred M, Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J, Forzan, Monica, Franklin, Christopher S, Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Gratacos Mayora, Monica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske G, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Huckins, Laura M, Hudson, James I, Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Karhunen, Leila, Karwautz, Andreas, Kas, Martien J H, Kennedy, James L, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl-Ri, Klump, Kelly L, Knudsen, Gun Peggy S, La Via, Maria C, Le Hellard, Stephanie, Levitan, Robert D, Li, Dong, Lilenfeld, Lisa, Lin, Bochao Danae, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre J, Maj, Mario, Mannik, Katrin, Marsal, Sara, Marshall, Christian R, Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen, Monteleone, Alessio Maria, Monteleone, Palmiero, Nacmias, Benedetta, Navratilova, Marie, Ntalla, Ioanna, O'Toole, Julie K, Ophoff, Roel A, Padyukov, Leonid, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Pinto, Dalila, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Scherer, Stephen W, Schmidt, Ulrike, Schork, Nicholas J, Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P Eline, Slof-Op't Landt, Margarita C T, Slopien, Agnieszka, Sorbi, Sandro, Świątkowska, Beata, Szatkiewicz, Jin P, Tachmazidou, Ioanna, Tenconi, Elena, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie A, van Furth, Eric F, Wagner, Gudrun, Walton, Esther, Widen, Elisabeth, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Bergen, Andrew W, Boden, Joseph M, Brandt, Harry, Crawford, Steven, Halmi, Katherine A, Horwood, L John, Johnson, Craig, Kaplan, Allan S, Kaye, Walter H, Mitchell, James, Olsen, Catherine M, Pearson, John F, Pedersen, Nancy L, Strober, Michael, Werge, Thomas, Whiteman, David C, Woodside, D Blake, Grove, Jakob, Henders, Anjali K, Larsen, Janne T, Parker, Richard, Petersen, Liselotte V, Jordan, Jennifer, Kennedy, Martin A, Birgegård, Andreas, Lichtenstein, Paul, Norring, Claes, Landén, Mikael, Mortensen, Preben Bo, Polimanti, Renato, McClintick, Jeanette N, Adkins, Amy E, Aliev, Fazil, Bacanu, Silviu-Alin, Batzler, Anthony, Bertelsen, Sarah, Biernacka, Joanna M, Bigdeli, Tim B, Chen, Li-Shiun, Clarke, Toni-Kim, Degenhardt, Franziska, Docherty, Anna R, Edwards, Alexis C, Foo, Jerome C, Fox, Louis, Frank, Josef, Hack, Laura M, Hartmann, Annette M, Hartz, Sarah M, Heilmann-Heimbach, Stefanie, Hodgkinson, Colin, Hoffmann, Per, Hottenga, Jouke-Jan, Konte, Bettina, Lahti, Jari, Lahti-Pulkkinen, Marius, Lai, Dongbing, Ligthart, Lannie, Loukola, Anu, Maher, Brion S, Mbarek, Hamdi, McIntosh, Andrew M, McQueen, Matthew B, Meyers, Jacquelyn L, Milaneschi, Yuri, Palviainen, Teemu, Peterson, Roseann E, Ryu, Euijung, Saccone, Nancy L, Salvatore, Jessica E, Sanchez-Roige, Sandra, Schwandt, Melanie, Sherva, Richard, Streit, Fabian, Strohmaier, Jana, Thomas, Nathaniel, Wang, Jen-Chyong, Webb, Bradley T, Wedow, Robbee, Wetherill, Leah, Wills, Amanda G, Zhou, Hang, Boardman, Jason D, Chen, Danfeng, Choi, Doo-Sup, Copeland, William E, Culverhouse, Robert C, Dahmen, Norbert, Degenhardt, Louisa, Domingue, Benjamin W, Frye, Mark A, Gäbel, Wolfgang, Hayward, Caroline, Ising, Marcus, Keyes, Margaret, Kiefer, Falk, Koller, Gabriele, Kramer, John, Kuperman, Samuel, Lucae, Susanne, Lynskey, Michael T, Maier, Wolfgang, Mann, Karl, Männistö, Satu, Müller-Myhsok, Bertram, Murray, Alison D, Nurnberger, John I, Preuss, Ulrich, Räikkönen, Katri, Reynolds, Maureen D, Ridinger, Monika, Scherbaum, Norbert, Schuckit, Marc A, Soyka, Michael, Treutlein, Jens, Witt, Stephanie H, Wodarz, Norbert, Zill, Peter, Adkins, Daniel E, Boomsma, Dorret I, Bierut, Laura J, Brown, Sandra A, Bucholz, Kathleen K, Costello, E Jane, de Wit, Harriet, Diazgranados, Nancy, Eriksson, Johan G, Farrer, Lindsay A, Foroud, Tatiana M, Gillespie, Nathan A, Goate, Alison M, Goldman, David, Grucza, Richard A, Hancock, Dana B, Harris, Kathleen Mullan, Hesselbrock, Victor, Hewitt, John K, Hopfer, Christian J, Iacono, William G, Johnson, Eric O, Karpyak, Victor M, Kendler, Kenneth S, Kranzler, Henry R, Krauter, Kenneth, Lind, Penelope A, McGue, Matt, MacKillop, James, Madden, Pamela A F, Maes, Hermine H, Magnusson, Patrik K E, Nelson, Elliot C, Nöthen, Markus M, Palmer, Abraham A, Penninx, Brenda W J H, Porjesz, Bernice, Rice, John P, Rietschel, Marcella, Riley, Brien P, Rose, Richard J, Shen, Pei-Hong, Silberg, Judy, Stallings, Michael C, Tarter, Ralph E, Vanyukov, Michael M, Vrieze, Scott, Wall, Tamara L, Whitfield, John B, Zhao, Hongyu, Neale, Benjamin M, Wade, Tracey D, Heath, Andrew C, Montgomery, Grant W, Martin, Nicholas G, Sullivan, Patrick F, Kaprio, Jaakko, Breen, Gerome, Gelernter, Joel, Edenberg, Howard J, Bulik, Cynthia M, Agrawal, Arpana, Munn-Chernoff, Melissa A, Johnson, Emma C, Chou, Yi-Ling, Coleman, Jonathan R I, Thornton, Laura M, Walters, Raymond K, Yilmaz, Zeynep, Baker, Jessica H, Hübel, Christopher, Gordon, Scott, Medland, Sarah E, Watson, Hunna J, Gaspar, Héléna A, Bryois, Julien, Hinney, Anke, Leppä, Virpi M, Mattheisen, Manuel, Ripke, Stephan, Yao, Shuyang, Giusti-Rodríguez, Paola, Hanscombe, Ken B, Adan, Roger A H, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole A, Berrettini, Wade H, Boehm, Ilka, Boni, Claudette, Boraska Perica, Vesna, Buehren, Katharina, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Cone, Roger D, Courtet, Philippe, Crow, Scott, Crowley, James J, Danner, Unna N, Davis, Oliver S P, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece E, Dick, Danielle M, Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Duncan, Laramie E, Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred M, Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J, Forzan, Monica, Franklin, Christopher S, Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Gratacos Mayora, Monica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske G, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Huckins, Laura M, Hudson, James I, Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Karhunen, Leila, Karwautz, Andreas, Kas, Martien J H, Kennedy, James L, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl-Ri, Klump, Kelly L, Knudsen, Gun Peggy S, La Via, Maria C, Le Hellard, Stephanie, Levitan, Robert D, Li, Dong, Lilenfeld, Lisa, Lin, Bochao Danae, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre J, Maj, Mario, Mannik, Katrin, Marsal, Sara, Marshall, Christian R, Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen, Monteleone, Alessio Maria, Monteleone, Palmiero, Nacmias, Benedetta, Navratilova, Marie, Ntalla, Ioanna, O'Toole, Julie K, Ophoff, Roel A, Padyukov, Leonid, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Pinto, Dalila, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Scherer, Stephen W, Schmidt, Ulrike, Schork, Nicholas J, Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P Eline, Slof-Op't Landt, Margarita C T, Slopien, Agnieszka, Sorbi, Sandro, Świątkowska, Beata, Szatkiewicz, Jin P, Tachmazidou, Ioanna, Tenconi, Elena, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie A, van Furth, Eric F, Wagner, Gudrun, Walton, Esther, Widen, Elisabeth, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Bergen, Andrew W, Boden, Joseph M, Brandt, Harry, Crawford, Steven, Halmi, Katherine A, Horwood, L John, Johnson, Craig, Kaplan, Allan S, Kaye, Walter H, Mitchell, James, Olsen, Catherine M, Pearson, John F, Pedersen, Nancy L, Strober, Michael, Werge, Thomas, Whiteman, David C, Woodside, D Blake, Grove, Jakob, Henders, Anjali K, Larsen, Janne T, Parker, Richard, Petersen, Liselotte V, Jordan, Jennifer, Kennedy, Martin A, Birgegård, Andreas, Lichtenstein, Paul, Norring, Claes, Landén, Mikael, Mortensen, Preben Bo, Polimanti, Renato, McClintick, Jeanette N, Adkins, Amy E, Aliev, Fazil, Bacanu, Silviu-Alin, Batzler, Anthony, Bertelsen, Sarah, Biernacka, Joanna M, Bigdeli, Tim B, Chen, Li-Shiun, Clarke, Toni-Kim, Degenhardt, Franziska, Docherty, Anna R, Edwards, Alexis C, Foo, Jerome C, Fox, Louis, Frank, Josef, Hack, Laura M, Hartmann, Annette M, Hartz, Sarah M, Heilmann-Heimbach, Stefanie, Hodgkinson, Colin, Hoffmann, Per, Hottenga, Jouke-Jan, Konte, Bettina, Lahti, Jari, Lahti-Pulkkinen, Marius, Lai, Dongbing, Ligthart, Lannie, Loukola, Anu, Maher, Brion S, Mbarek, Hamdi, McIntosh, Andrew M, McQueen, Matthew B, Meyers, Jacquelyn L, Milaneschi, Yuri, Palviainen, Teemu, Peterson, Roseann E, Ryu, Euijung, Saccone, Nancy L, Salvatore, Jessica E, Sanchez-Roige, Sandra, Schwandt, Melanie, Sherva, Richard, Streit, Fabian, Strohmaier, Jana, Thomas, Nathaniel, Wang, Jen-Chyong, Webb, Bradley T, Wedow, Robbee, Wetherill, Leah, Wills, Amanda G, Zhou, Hang, Boardman, Jason D, Chen, Danfeng, Choi, Doo-Sup, Copeland, William E, Culverhouse, Robert C, Dahmen, Norbert, Degenhardt, Louisa, Domingue, Benjamin W, Frye, Mark A, Gäbel, Wolfgang, Hayward, Caroline, Ising, Marcus, Keyes, Margaret, Kiefer, Falk, Koller, Gabriele, Kramer, John, Kuperman, Samuel, Lucae, Susanne, Lynskey, Michael T, Maier, Wolfgang, Mann, Karl, Männistö, Satu, Müller-Myhsok, Bertram, Murray, Alison D, Nurnberger, John I, Preuss, Ulrich, Räikkönen, Katri, Reynolds, Maureen D, Ridinger, Monika, Scherbaum, Norbert, Schuckit, Marc A, Soyka, Michael, Treutlein, Jens, Witt, Stephanie H, Wodarz, Norbert, Zill, Peter, Adkins, Daniel E, Boomsma, Dorret I, Bierut, Laura J, Brown, Sandra A, Bucholz, Kathleen K, Costello, E Jane, de Wit, Harriet, Diazgranados, Nancy, Eriksson, Johan G, Farrer, Lindsay A, Foroud, Tatiana M, Gillespie, Nathan A, Goate, Alison M, Goldman, David, Grucza, Richard A, Hancock, Dana B, Harris, Kathleen Mullan, Hesselbrock, Victor, Hewitt, John K, Hopfer, Christian J, Iacono, William G, Johnson, Eric O, Karpyak, Victor M, Kendler, Kenneth S, Kranzler, Henry R, Krauter, Kenneth, Lind, Penelope A, McGue, Matt, MacKillop, James, Madden, Pamela A F, Maes, Hermine H, Magnusson, Patrik K E, Nelson, Elliot C, Nöthen, Markus M, Palmer, Abraham A, Penninx, Brenda W J H, Porjesz, Bernice, Rice, John P, Rietschel, Marcella, Riley, Brien P, Rose, Richard J, Shen, Pei-Hong, Silberg, Judy, Stallings, Michael C, Tarter, Ralph E, Vanyukov, Michael M, Vrieze, Scott, Wall, Tamara L, Whitfield, John B, Zhao, Hongyu, Neale, Benjamin M, Wade, Tracey D, Heath, Andrew C, Montgomery, Grant W, Martin, Nicholas G, Sullivan, Patrick F, Kaprio, Jaakko, Breen, Gerome, Gelernter, Joel, Edenberg, Howard J, Bulik, Cynthia M, and Agrawal, Arpana
Abstract: Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [rg ], twin-based = 0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from ~2400 to ~537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder- and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (rg = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN (rg = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating (rg = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating (rgs = -0.19 to -0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co-varying for major depressive disorder loci. The patterns of association between eating disorder- and substance-use-related phenotypes highlights the potentially complex and substance-sp
Published: 2021
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11. Gene-environment interactions relevant to estrogen and risk of breast cancer:can gene-environment interactions be detected only among candidate SNPs from genome-wide association studies?

Author: Park, J. (JooYong), Choi, J.-Y. (Ji-Yeob), Choi, J. (Jaesung), Chung, S. (Seokang), Song, N. (Nan), Park, S. K. (Sue K.), Han, W. (Wonshik), Noh, D.-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Lee, J. W. (Jong Won), Kim, M. K. (Mi Kyung), Jee, S. H. (Sun Ha), Wen, W. (Wanqing), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Shah, M. (Mitul), Conroy, D. M. (Don M.), Harrington, P. A. (Patricia A.), Mayes, R. (Rebecca), Czene, K. (Kamila), Hall, P. (Per), Teras, L. R. (Lauren R.), Patel, A. V. (Alpa V.), Couch, F. J. (Fergus J.), Olson, J. E. (Janet E.), Sawyer, E. J. (Elinor J.), Roylance, R. (Rebecca), Bojesen, S. E. (Stig E.), Flyger, H. (Henrik), Lambrechts, D. (Diether), Baten, A. (Adinda), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Guenel, P. (Pascal), Truong, T. (Therese), Keeman, R. (Renske), Schmidt, M. K. (Marjanka K.), Wu, A. H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Cox, A. (Angela), Cross, S. S. (Simon S.), Andrulis, I. L. (Irene L.), Hopper, J. L. (John L.), Southey, M. C. (Melissa C.), Wu, P.-E. (Pei-Ei), Shen, C.-Y. (Chen-Yang), Fasching, P. A. (Peter A.), Ekici, A. B. (Arif B.), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Brenner, H. (Hermann), Arndt, V. (Volker), Jones, M. E. (Michael E.), Swerdlow, A. J. (Anthony J.), Hoppe, R. (Reiner), Ko, Y.-D. (Yon-Dschun), Hartman, M. (Mikael), Li, J. (Jingmei), Mannermaa, A. (Arto), Hartikainen, J. M. (Jaana M.), Benitez, J. (Javier), Gonzalez-Neira, A. (Anna), Haiman, C. A. (Christopher A.), Doerk, T. (Thilo), Bogdanova, N. V. (Natalia V.), Teo, S. H. (Soo Hwang), Mohd Taib, N. A. (Nur Aishah), Fletcher, O. (Olivia), Johnson, N. (Nichola), Grip, M. (Mervi), Winqvist, R. (Robert), Blomqvist, C. (Carl), Nevanlinna, H. (Heli), Lindblom, A. (Annika), Wendt, C. (Camilla), Kristensen, V. N. (Vessela N.), Tollenaar, R. A. (Rob A. E. M.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Radice, P. (Paolo), Bonanni, B. (Bernardo), Hamann, U. (Ute), Manoochehri, M. (Mehdi), Lacey, J. V. (James V.), Martinez, M. E. (Maria Elena), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Yoo, K.-Y. (Keun-Young), Kang, D. (Daehee), Park, J. (JooYong), Choi, J.-Y. (Ji-Yeob), Choi, J. (Jaesung), Chung, S. (Seokang), Song, N. (Nan), Park, S. K. (Sue K.), Han, W. (Wonshik), Noh, D.-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Lee, J. W. (Jong Won), Kim, M. K. (Mi Kyung), Jee, S. H. (Sun Ha), Wen, W. (Wanqing), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Shah, M. (Mitul), Conroy, D. M. (Don M.), Harrington, P. A. (Patricia A.), Mayes, R. (Rebecca), Czene, K. (Kamila), Hall, P. (Per), Teras, L. R. (Lauren R.), Patel, A. V. (Alpa V.), Couch, F. J. (Fergus J.), Olson, J. E. (Janet E.), Sawyer, E. J. (Elinor J.), Roylance, R. (Rebecca), Bojesen, S. E. (Stig E.), Flyger, H. (Henrik), Lambrechts, D. (Diether), Baten, A. (Adinda), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Guenel, P. (Pascal), Truong, T. (Therese), Keeman, R. (Renske), Schmidt, M. K. (Marjanka K.), Wu, A. H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Cox, A. (Angela), Cross, S. S. (Simon S.), Andrulis, I. L. (Irene L.), Hopper, J. L. (John L.), Southey, M. C. (Melissa C.), Wu, P.-E. (Pei-Ei), Shen, C.-Y. (Chen-Yang), Fasching, P. A. (Peter A.), Ekici, A. B. (Arif B.), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Brenner, H. (Hermann), Arndt, V. (Volker), Jones, M. E. (Michael E.), Swerdlow, A. J. (Anthony J.), Hoppe, R. (Reiner), Ko, Y.-D. (Yon-Dschun), Hartman, M. (Mikael), Li, J. (Jingmei), Mannermaa, A. (Arto), Hartikainen, J. M. (Jaana M.), Benitez, J. (Javier), Gonzalez-Neira, A. (Anna), Haiman, C. A. (Christopher A.), Doerk, T. (Thilo), Bogdanova, N. V. (Natalia V.), Teo, S. H. (Soo Hwang), Mohd Taib, N. A. (Nur Aishah), Fletcher, O. (Olivia), Johnson, N. (Nichola), Grip, M. (Mervi), Winqvist, R. (Robert), Blomqvist, C. (Carl), Nevanlinna, H. (Heli), Lindblom, A. (Annika), Wendt, C. (Camilla), Kristensen, V. N. (Vessela N.), Tollenaar, R. A. (Rob A. E. M.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Radice, P. (Paolo), Bonanni, B. (Bernardo), Hamann, U. (Ute), Manoochehri, M. (Mehdi), Lacey, J. V. (James V.), Martinez, M. E. (Maria Elena), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Yoo, K.-Y. (Keun-Young), and Kang, D. (Daehee)
Abstract: In this study we aim to examine gene–environment interactions (GxEs) between genes involved with estrogen metabolism and environmental factors related to estrogen exposure. GxE analyses were conducted with 1970 Korean breast cancer cases and 2052 controls in the case-control study, the Seoul Breast Cancer Study (SEBCS). A total of 11,555 SNPs from the 137 candidate genes were included in the GxE analyses with eight established environmental factors. A replication test was conducted by using an independent population from the Breast Cancer Association Consortium (BCAC), with 62,485 Europeans and 9047 Asians. The GxE tests were performed by using two-step methods in GxEScan software. Two interactions were found in the SEBCS. The first interaction was shown between rs13035764 of NCOA1 and age at menarche in the GE|2df model (p-2df = 1.2 × 10−3). The age at menarche before 14 years old was associated with the high risk of breast cancer, and the risk was higher when subjects had homozygous minor allele G. The second GxE was shown between rs851998 near ESR1 and height in the GE|2df model (p-2df = 1.1 × 10−4). Height taller than 160 cm was associated with a high risk of breast cancer, and the risk increased when the minor allele was added. The findings were not replicated in the BCAC. These results would suggest specificity in Koreans for breast cancer risk.
Published: 2021

12. Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

Author: Baxter, J. S. (Joseph S.), Johnson, N. (Nichola), Tomczyk, K. (Katarzyna), Gillespie, A. (Andrea), Maguire, S. (Sarah), Brough, R. (Rachel), Fachal, L. (Laura), Michailidou, K. (Kyriaki), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Augustinsson, A. (Annelie), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Brenner, H. (Hermann), Brucker, S. Y. (Sara Y.), Cai, Q. (Qiuyin), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chan, T. L. (Tsun L.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Choi, J.-Y. (Ji-Yeob), Clarke, C. L. (Christine L.), Collaborators, N. (Nbcs), Colonna, S. (Sarah), Conroy, D. M. (Don M.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Doerk, T. (Thilo), Dossus, L. (Laure), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Engel, C. (Christoph), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Gao, C. (Chi), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Ghoussaini, M. (Maya), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Guendert, M. (Melanie), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Hartman, M. (Mikael), Hatse, S. (Sigrid), Hauke, J. (Jan), Hollestelle, A. (Antoinette), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Hou, M.-F. (Ming-Feng), Ito, H. (Hidemi), Iwasaki, M. (Motoki), Jager, A. (Agnes), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Joseph, V. (Vijai), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kang, D. (Daehee), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kim, S.-W. (Sung-Won), Kosma, V.-M. (Veli-Matti), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kubelka-Sabit, K. (Katerina), Kurian, A. W. (Allison W.), Kwong, A. (Ava), Lacey, J. V. (James, V), Lambrechts, D. (Diether), Larson, N. L. (Nicole L.), Larsson, S. C. (Susanna C.), Le Marchand, L. (Loic), Lejbkowicz, F. (Flavio), Li, J. (Jingmei), Long, J. (Jirong), Lophatananon, A. (Artitaya), LubiNski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Matsuo, K. (Keitaro), Mavroudis, D. (Dimitrios), Mayes, R. (Rebecca), Menon, U. (Usha), Milne, R. L. (Roger L.), Taib, N. A. (Nur Aishah Mohd), Muir, K. (Kenneth), Muranen, T. A. (Taru A.), Murphy, R. A. (Rachel A.), Nevanlinna, H. (Heli), O'Brien, K. M. (Katie M.), Offit, K. (Kenneth), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Park, S. K. (Sue K.), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa, V), Peterlongo, P. (Paolo), Peto, J. (Julian), Plaseska-Karanfilska, D. (Dijana), Presneau, N. (Nadege), Pylkäs, K. (Katri), Rack, B. (Brigitte), Rennert, G. (Gad), Romero, A. (Atocha), Ruebner, M. (Matthias), Ruediger, T. (Thomas), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Shah, M. (Mitul), Shen, C.-Y. (Chen-Yang), Shu, X.-O. (Xiao-Ou), Simard, J. (Jacques), Southey, M. C. (Melissa C.), Stone, J. (Jennifer), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teo, S. H. (Soo Hwang), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Toland, A. E. (Amanda E.), Tomlinson, I. (Ian), Truong, T. (Therese), Tseng, C.-C. (Chiu-Chen), Untch, M. (Michael), Vachon, C. M. (Celine M.), van den Ouweland, A. M. (Ans M. W.), Wang, S. S. (Sophia S.), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Winham, S. J. (Stacey J.), Winqvist, R. (Robert), Wolk, A. (Alicja), Wu, A. H. (Anna H.), Yamaji, T. (Taiki), Zheng, W. (Wei), Ziogas, A. (Argyrios), Pharoah, P. D. (Paul D. P.), Dunning, A. M. (Alison M.), Easton, D. F. (Douglas F.), Pettitt, S. J. (Stephen J.), Lord, C. J. (Christopher J.), Haider, S. (Syed), Orr, N. (Nick), Fletcher, O. (Olivia), Baxter, J. S. (Joseph S.), Johnson, N. (Nichola), Tomczyk, K. (Katarzyna), Gillespie, A. (Andrea), Maguire, S. (Sarah), Brough, R. (Rachel), Fachal, L. (Laura), Michailidou, K. (Kyriaki), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Augustinsson, A. (Annelie), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Brenner, H. (Hermann), Brucker, S. Y. (Sara Y.), Cai, Q. (Qiuyin), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chan, T. L. (Tsun L.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Choi, J.-Y. (Ji-Yeob), Clarke, C. L. (Christine L.), Collaborators, N. (Nbcs), Colonna, S. (Sarah), Conroy, D. M. (Don M.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Doerk, T. (Thilo), Dossus, L. (Laure), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Engel, C. (Christoph), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Gao, C. (Chi), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Ghoussaini, M. (Maya), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Guendert, M. (Melanie), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Hartman, M. (Mikael), Hatse, S. (Sigrid), Hauke, J. (Jan), Hollestelle, A. (Antoinette), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Hou, M.-F. (Ming-Feng), Ito, H. (Hidemi), Iwasaki, M. (Motoki), Jager, A. (Agnes), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Joseph, V. (Vijai), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kang, D. (Daehee), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kim, S.-W. (Sung-Won), Kosma, V.-M. (Veli-Matti), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kubelka-Sabit, K. (Katerina), Kurian, A. W. (Allison W.), Kwong, A. (Ava), Lacey, J. V. (James, V), Lambrechts, D. (Diether), Larson, N. L. (Nicole L.), Larsson, S. C. (Susanna C.), Le Marchand, L. (Loic), Lejbkowicz, F. (Flavio), Li, J. (Jingmei), Long, J. (Jirong), Lophatananon, A. (Artitaya), LubiNski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Matsuo, K. (Keitaro), Mavroudis, D. (Dimitrios), Mayes, R. (Rebecca), Menon, U. (Usha), Milne, R. L. (Roger L.), Taib, N. A. (Nur Aishah Mohd), Muir, K. (Kenneth), Muranen, T. A. (Taru A.), Murphy, R. A. (Rachel A.), Nevanlinna, H. (Heli), O'Brien, K. M. (Katie M.), Offit, K. (Kenneth), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Park, S. K. (Sue K.), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa, V), Peterlongo, P. (Paolo), Peto, J. (Julian), Plaseska-Karanfilska, D. (Dijana), Presneau, N. (Nadege), Pylkäs, K. (Katri), Rack, B. (Brigitte), Rennert, G. (Gad), Romero, A. (Atocha), Ruebner, M. (Matthias), Ruediger, T. (Thomas), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Shah, M. (Mitul), Shen, C.-Y. (Chen-Yang), Shu, X.-O. (Xiao-Ou), Simard, J. (Jacques), Southey, M. C. (Melissa C.), Stone, J. (Jennifer), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teo, S. H. (Soo Hwang), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Toland, A. E. (Amanda E.), Tomlinson, I. (Ian), Truong, T. (Therese), Tseng, C.-C. (Chiu-Chen), Untch, M. (Michael), Vachon, C. M. (Celine M.), van den Ouweland, A. M. (Ans M. W.), Wang, S. S. (Sophia S.), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Winham, S. J. (Stacey J.), Winqvist, R. (Robert), Wolk, A. (Alicja), Wu, A. H. (Anna H.), Yamaji, T. (Taiki), Zheng, W. (Wei), Ziogas, A. (Argyrios), Pharoah, P. D. (Paul D. P.), Dunning, A. M. (Alison M.), Easton, D. F. (Douglas F.), Pettitt, S. J. (Stephen J.), Lord, C. J. (Christopher J.), Haider, S. (Syed), Orr, N. (Nick), and Fletcher, O. (Olivia)
Abstract: A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), and 42 (signal 3) credible causal variants at these loci. We used publicly available in silico DNase I and ChIP-seq data with in vitro reporter gene and CRISPR assays to annotate signals 2 and 3. We identified putative regulatory elements that enhanced cell-type-specific transcription from the IGFBP5 promoter at both signals (30- to 40-fold increased expression by the putative regulatory element at signal 2, 2- to 3-fold by the putative regulatory element at signal 3). We further identified one of the five credible causal variants at signal 2, a 1.4 kb deletion (esv3594306), as the likely causal variant; the deletion allele of this variant was associated with an average additional increase in IGFBP5 expression of 1.3-fold (MCF-7) and 2.2-fold (T-47D). We propose a model in which the deletion allele of esv3594306 juxtaposes two transcription factor binding regions (annotated by estrogen receptor alpha ChIP-seq peaks) to generate a single extended regulatory element. This regulatory element increases cell-type-specific expression of the tumor suppressor gene IGFBP5 and, thereby, reduces risk of estrogen receptor-positive breast cancer (odds ratio = 0.77, 95% CI 0.74–0.81, p = 3.1 × 10−31).
Published: 2021

13. Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

Author: Escala-Garcia, M. (Maria), Canisius, S. (Sander), Keeman, R. (Renske), Beesley, J. (Jonathan), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Augustinsson, A. (Annelie), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Bermisheva, M. (Marina), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Brenner, H. (Hermann), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Couch, F. J. (Fergus J.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Devilee, P. (Peter), Dork, T. (Thilo), Dunning, A. M. (Alison M.), Easton, D. F. (Douglas F.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Fasching, P. A. (Peter A.), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Geisler, J. (Juergen), Giles, G. G. (Graham G.), Grip, M. (Mervi), Guendert, M. (Melanie), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hartikainen, J. M. (Jaana M.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Hollestelle, A. (Antoinette), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Hunter, D. J. (David J.), Jacot, W. (William), Jakubowska, A. (Anna), John, E. M. (Esther M.), Jung, A. Y. (Audrey Y.), Kaaks, R. (Rudolf), Khusnutdinova, E. (Elza), Koppert, L. B. (Linetta B.), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lindblom, A. (Annika), Luben, R. N. (Robert N.), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Mavroudis, D. (Dimitrios), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa V.), Peterlongo, P. (Paolo), Pharoah, P. D. (Paul D. P.), Punie, K. (Kevin), Radice, P. (Paolo), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Romero, A. (Atocha), Roylance, R. (Rebecca), Ruediger, T. (Thomas), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schoemaker, M. J. (Minouk J.), Scott, C. (Christopher), Southey, M. C. (Melissa C.), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Teras, L. R. (Lauren R.), Thomas, E. (Emilie), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Vachon, C. M. (Celine M.), Wang, Q. (Qin), Winqvist, R. (Robert), Wolk, A. (Alicja), Ziogas, A. (Argyrios), Michailidou, K. (Kyriaki), Chenevix-Trench, G. (Georgia), Bachelot, T. (Thomas), Schmidt, M. K. (Marjanka K.), Escala-Garcia, M. (Maria), Canisius, S. (Sander), Keeman, R. (Renske), Beesley, J. (Jonathan), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Augustinsson, A. (Annelie), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Bermisheva, M. (Marina), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Brenner, H. (Hermann), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Couch, F. J. (Fergus J.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Devilee, P. (Peter), Dork, T. (Thilo), Dunning, A. M. (Alison M.), Easton, D. F. (Douglas F.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Fasching, P. A. (Peter A.), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Geisler, J. (Juergen), Giles, G. G. (Graham G.), Grip, M. (Mervi), Guendert, M. (Melanie), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hartikainen, J. M. (Jaana M.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Hollestelle, A. (Antoinette), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Hunter, D. J. (David J.), Jacot, W. (William), Jakubowska, A. (Anna), John, E. M. (Esther M.), Jung, A. Y. (Audrey Y.), Kaaks, R. (Rudolf), Khusnutdinova, E. (Elza), Koppert, L. B. (Linetta B.), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lindblom, A. (Annika), Luben, R. N. (Robert N.), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Mavroudis, D. (Dimitrios), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa V.), Peterlongo, P. (Paolo), Pharoah, P. D. (Paul D. P.), Punie, K. (Kevin), Radice, P. (Paolo), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Romero, A. (Atocha), Roylance, R. (Rebecca), Ruediger, T. (Thomas), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schoemaker, M. J. (Minouk J.), Scott, C. (Christopher), Southey, M. C. (Melissa C.), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Teras, L. R. (Lauren R.), Thomas, E. (Emilie), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Vachon, C. M. (Celine M.), Wang, Q. (Qin), Winqvist, R. (Robert), Wolk, A. (Alicja), Ziogas, A. (Argyrios), Michailidou, K. (Kyriaki), Chenevix-Trench, G. (Georgia), Bachelot, T. (Thomas), and Schmidt, M. K. (Marjanka K.)
Abstract: Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer progression and assist treatment. In this analysis, we studied the associations between germline variants and breast cancer survival for patients with distant metastases at primary breast cancer diagnosis. We used data from the Breast Cancer Association Consortium (BCAC) including 1062 women of European ancestry with metastatic breast cancer, 606 of whom died of breast cancer. We identified two germline variants on chromosome 1, rs138569520 and rs146023652, significantly associated with breast cancer-specific survival (P = 3.19 × 10−8 and 4.42 × 10−8). In silico analysis suggested a potential regulatory effect of the variants on the nearby target genes SDE2 and H3F3A. However, the variants showed no evidence of association in a smaller replication dataset. The validation dataset was obtained from the SNPs to Risk of Metastasis (StoRM) study and included 293 patients with metastatic primary breast cancer at diagnosis. Ultimately, larger replication studies are needed to confirm the identified associations.
Published: 2021

14. Mendelian randomisation study of smoking exposure in relation to breast cancer risk

Author: Park, H. A. (Hanla A.), Neumeyer, S. (Sonja), Michailidou, K. (Kyriaki), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Augustinsson, A. (Annelie), Baten, A. (Adinda), Freeman, L. E. (Laura E. Beane), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Clarke, C. L. (Christine L.), Conroy, D. M. (Don M.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Dork, T. (Thilo), Dos-Santos-Silva, I. (Isabel), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Eliassen, A. H. (A. Heather), Engel, C. (Christoph), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Flyger, H. (Henrik), Fritschi, L. (Lin), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Giles, G. G. (Graham G.), Glendon, G. (Gord), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Grip, M. (Mervi), Guenel, P. (Pascal), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Han, S. (Sileny), Harkness, E. F. (Elaine F.), Hart, S. N. (Steven N.), He, W. (Wei), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Hopper, J. L. (John L.), Hunter, D. J. (David J.), Jager, A. (Agnes), Jakubowska, A. (Anna), John, E. M. (Esther M.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kapoor, P. M. (Pooja Middha), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Koppert, L. B. (Linetta B.), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lacey, J. (James), Lambrechts, D. (Diether), LeMarchand, L. (Loic), Lo, W.-Y. (Wing-Yee), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), ElenaMartinez, M. (Maria), Mavroudis, D. (Dimitrios), Meindl, A. (Alfons), Menon, U. (Usha), Milne, R. L. (Roger L.), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nordestgaard, B. G. (Borge G.), Offit, K. (Kenneth), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Park-Simon, T.-W. (Tjoung-Won), Peterlongo, P. (Paolo), Peto, J. (Julian), Plaseska-Karanfilska, D. (Dijana), Presneau, N. (Nadege), Radice, P. (Paolo), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Romero, A. (Atocha), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Schoemaker, M. J. (Minouk J.), Schwentner, L. (Lukas), Scott, C. (Christopher), Shah, M. (Mitul), Shu, X.-O. (Xiao-Ou), Simard, J. (Jacques), Smeets, A. (Ann), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stevens, V. (Victoria), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Terry, M. B. (Mary Beth), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Vachon, C. M. (Celine M.), van Veen, E. M. (Elke M.), Vijai, J. (Joseph), Wang, S. (Sophia), Wendt, C. (Camilla), Winqvist, R. (Robert), Wolk, A. (Alicja), Ziogas, A. (Argyrios), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Zheng, W. (Wei), Kraft, P. (Peter), Chang-Claude, J. (Jenny), Park, H. A. (Hanla A.), Neumeyer, S. (Sonja), Michailidou, K. (Kyriaki), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Augustinsson, A. (Annelie), Baten, A. (Adinda), Freeman, L. E. (Laura E. Beane), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Clarke, C. L. (Christine L.), Conroy, D. M. (Don M.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Dork, T. (Thilo), Dos-Santos-Silva, I. (Isabel), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Eliassen, A. H. (A. Heather), Engel, C. (Christoph), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Flyger, H. (Henrik), Fritschi, L. (Lin), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Giles, G. G. (Graham G.), Glendon, G. (Gord), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Grip, M. (Mervi), Guenel, P. (Pascal), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Han, S. (Sileny), Harkness, E. F. (Elaine F.), Hart, S. N. (Steven N.), He, W. (Wei), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Hopper, J. L. (John L.), Hunter, D. J. (David J.), Jager, A. (Agnes), Jakubowska, A. (Anna), John, E. M. (Esther M.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kapoor, P. M. (Pooja Middha), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Koppert, L. B. (Linetta B.), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lacey, J. (James), Lambrechts, D. (Diether), LeMarchand, L. (Loic), Lo, W.-Y. (Wing-Yee), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), ElenaMartinez, M. (Maria), Mavroudis, D. (Dimitrios), Meindl, A. (Alfons), Menon, U. (Usha), Milne, R. L. (Roger L.), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nordestgaard, B. G. (Borge G.), Offit, K. (Kenneth), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Park-Simon, T.-W. (Tjoung-Won), Peterlongo, P. (Paolo), Peto, J. (Julian), Plaseska-Karanfilska, D. (Dijana), Presneau, N. (Nadege), Radice, P. (Paolo), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Romero, A. (Atocha), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Schoemaker, M. J. (Minouk J.), Schwentner, L. (Lukas), Scott, C. (Christopher), Shah, M. (Mitul), Shu, X.-O. (Xiao-Ou), Simard, J. (Jacques), Smeets, A. (Ann), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stevens, V. (Victoria), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Terry, M. B. (Mary Beth), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Vachon, C. M. (Celine M.), van Veen, E. M. (Elke M.), Vijai, J. (Joseph), Wang, S. (Sophia), Wendt, C. (Camilla), Winqvist, R. (Robert), Wolk, A. (Alicja), Ziogas, A. (Argyrios), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Zheng, W. (Wei), Kraft, P. (Peter), and Chang-Claude, J. (Jenny)
Abstract: Background: Despite a modest association between tobacco smoking and breast cancer risk reported by recent epidemiological studies, it is still equivocal whether smoking is causally related to breast cancer risk. Methods: We applied Mendelian randomisation (MR) to evaluate a potential causal effect of cigarette smoking on breast cancer risk. Both individual-level data as well as summary statistics for 164 single-nucleotide polymorphisms (SNPs) reported in genome-wide association studies of lifetime smoking index (LSI) or cigarette per day (CPD) were used to obtain MR effect estimates. Data from 108,420 invasive breast cancer cases and 87,681 controls were used for the LSI analysis and for the CPD analysis conducted among ever-smokers from 26,147 cancer cases and 26,072 controls. Sensitivity analyses were conducted to address pleiotropy. Results: Genetically predicted LSI was associated with increased breast cancer risk (OR 1.18 per SD, 95% CI: 1.07–1.30, P = 0.11 × 10⁻²), but there was no evidence of association for genetically predicted CPD (OR 1.02, 95% CI: 0.78–1.19, P = 0.85). The sensitivity analyses yielded similar results and showed no strong evidence of pleiotropic effect. Conclusions: Our MR study provides supportive evidence for a potential causal association with breast cancer risk for lifetime smoking exposure but not cigarettes per day among smokers.
Published: 2021

15. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

Author: Morra, A. (Anna), Escala-Garcia, M. (Maria), Beesley, J. (Jonathan), Keeman, R. (Renske), Canisius, S. (Sander), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Auer, P. L. (Paul L.), Augustinsson, A. (Annelie), Freeman, L. E. (Laura E. Beane), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Brenner, H. (Hermann), Bruening, T. (Thomas), Buys, S. S. (Saundra S.), Caan, B. (Bette), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Cheng, T. D. (Ting-Yuan David), Clarke, C. L. (Christine L.), Colonna, S. V. (Sarah, V), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Dork, T. (Thilo), Dossus, L. (Laure), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Flyger, H. (Henrik), Fritschi, L. (Lin), Gago-Dominguez, M. (Manuela), Garcia-Saenz, J. A. (Jose A.), Giles, G. G. (Graham G.), Grip, M. (Mervi), Guenel, P. (Pascal), Guendert, M. (Melanie), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hart, S. N. (Steven N.), Hartikainen, J. M. (Jaana M.), Hartmann, A. (Arndt), He, W. (Wei), Hooning, M. J. (Maartje J.), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Howell, A. (Anthony), Hunter, D. J. (David J.), Jager, A. (Agnes), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Jung, A. Y. (Audrey Y.), Kaaks, R. (Rudolf), Keupers, M. (Machteld), Kitahara, C. M. (Cari M.), Koutros, S. (Stella), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lacey, J. V. (James, V), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lindblom, A. (Annika), Linet, M. (Martha), Luben, R. N. (Robert N.), Lush, M. (Michael), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Martens, J. W. (John W. M.), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), Michailidou, K. (Kyriaki), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Orr, N. (Nick), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa, V), Peissel, B. (Bernard), Peterlongo, P. (Paolo), Plaseska-Karanfilska, D. (Dijana), Prajzendanc, K. (Karolina), Prentice, R. (Ross), Presneau, N. (Nadege), Rack, B. (Brigitte), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Roylance, R. (Rebecca), Lubinski, J. (Jan), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Scott, C. (Christopher), Shah, M. (Mitul), Smichkoska, S. (Snezhana), Southey, M. C. (Melissa C.), Stone, J. (Jennifer), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Vachon, C. M. (Celine M.), Wang, Q. (Qin), Hurson, A. N. (Amber N.), Winqvist, R. (Robert), Wolk, A. (Alicja), Ziogas, A. (Argyrios), Brauch, H. (Hiltrud), Garcia-Closas, M. (Montserrat), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Chenevix-Trench, G. (Georgia), Schmidt, M. K. (Marjanka K.), Morra, A. (Anna), Escala-Garcia, M. (Maria), Beesley, J. (Jonathan), Keeman, R. (Renske), Canisius, S. (Sander), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Auer, P. L. (Paul L.), Augustinsson, A. (Annelie), Freeman, L. E. (Laura E. Beane), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Brenner, H. (Hermann), Bruening, T. (Thomas), Buys, S. S. (Saundra S.), Caan, B. (Bette), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Cheng, T. D. (Ting-Yuan David), Clarke, C. L. (Christine L.), Colonna, S. V. (Sarah, V), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Dork, T. (Thilo), Dossus, L. (Laure), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Flyger, H. (Henrik), Fritschi, L. (Lin), Gago-Dominguez, M. (Manuela), Garcia-Saenz, J. A. (Jose A.), Giles, G. G. (Graham G.), Grip, M. (Mervi), Guenel, P. (Pascal), Guendert, M. (Melanie), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hart, S. N. (Steven N.), Hartikainen, J. M. (Jaana M.), Hartmann, A. (Arndt), He, W. (Wei), Hooning, M. J. (Maartje J.), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Howell, A. (Anthony), Hunter, D. J. (David J.), Jager, A. (Agnes), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Jung, A. Y. (Audrey Y.), Kaaks, R. (Rudolf), Keupers, M. (Machteld), Kitahara, C. M. (Cari M.), Koutros, S. (Stella), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lacey, J. V. (James, V), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lindblom, A. (Annika), Linet, M. (Martha), Luben, R. N. (Robert N.), Lush, M. (Michael), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Martens, J. W. (John W. M.), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), Michailidou, K. (Kyriaki), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Orr, N. (Nick), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa, V), Peissel, B. (Bernard), Peterlongo, P. (Paolo), Plaseska-Karanfilska, D. (Dijana), Prajzendanc, K. (Karolina), Prentice, R. (Ross), Presneau, N. (Nadege), Rack, B. (Brigitte), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Roylance, R. (Rebecca), Lubinski, J. (Jan), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Scott, C. (Christopher), Shah, M. (Mitul), Smichkoska, S. (Snezhana), Southey, M. C. (Melissa C.), Stone, J. (Jennifer), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Vachon, C. M. (Celine M.), Wang, Q. (Qin), Hurson, A. N. (Amber N.), Winqvist, R. (Robert), Wolk, A. (Alicja), Ziogas, A. (Argyrios), Brauch, H. (Hiltrud), Garcia-Closas, M. (Montserrat), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Chenevix-Trench, G. (Georgia), and Schmidt, M. K. (Marjanka K.)
Abstract: Background: Given the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breast cancer patients. Methods: We performed genome-wide association analyses within 15 subgroups of breast cancer patients based on prognostic factors, including hormone receptors, tumor grade, age, and type of systemic treatment. Analyses were based on 91,686 female patients of European ancestry from the Breast Cancer Association Consortium, including 7531 breast cancer-specific deaths over a median follow-up of 8.1 years. Cox regression was used to assess associations of common germline variants with 15-year and 5-year breast cancer-specific survival. We assessed the probability of these associations being true positives via the Bayesian false discovery probability (BFDP & 0.15). Results: Evidence of associations with breast cancer-specific survival was observed in three patient subgroups, with variant rs5934618 in patients with grade 3 tumors (15-year-hazard ratio (HR) [95% confidence interval (CI)] 1.32 [1.20, 1.45], P = 1.4E−08, BFDP = 0.01, per G allele); variant rs4679741 in patients with ER-positive tumors treated with endocrine therapy (15-year-HR [95% CI] 1.18 [1.11, 1.26], P = 1.6E−07, BFDP = 0.09, per G allele); variants rs1106333 (15-year-HR [95% CI] 1.68 [1.39,2.03], P = 5.6E−08, BFDP = 0.12, per A allele) and rs78754389 (5-year-HR [95% CI] 1.79 [1.46,2.20], P = 1.7E−08, BFDP = 0.07, per A allele), in patients with ER-negative tumors treated with chemotherapy. Conclusions: We found evidence of four loci associated with breast cancer-specific survival within three patient subgroups. There was limited evidence for the existence of associations in other patient subgroups. However, the power for many subgroups is limited due to the low number of events. Even so, our results suggest that the impact of common germline genetic varia
Published: 2021

16. Evidence of formation of an amorphous magnesium silicate (AMS) phase during alkali activation of (Na-Mg) aluminosilicate glasses

Author: Sreenivasan, H. (Harisankar), Adesanya, E. (Elijah), Niu, H. (He), Perumal, P. (Priyadharshini), Kantola, A. M. (Anu M.), Telkki, V.-V. (Ville-Veikko), Huttula, M. (Marko), Cao, W. (Wei), Provis, J. L. (John L.), Illikainen, M. (Mirja), Kinnunen, P. (Päivö), Sreenivasan, H. (Harisankar), Adesanya, E. (Elijah), Niu, H. (He), Perumal, P. (Priyadharshini), Kantola, A. M. (Anu M.), Telkki, V.-V. (Ville-Veikko), Huttula, M. (Marko), Cao, W. (Wei), Provis, J. L. (John L.), Illikainen, M. (Mirja), and Kinnunen, P. (Päivö)
Abstract: There is some ambiguity regarding the fate of Mg during the alkali activation of Mg-rich precursors within the broader field of alkali activated materials (AAMs). The present work addresses this issue by studying the reaction products in AAMs synthesized from (Na-Mg) aluminosilicate glasses. Here, instead of magnesium silicate hydrate (M-S-H) phase, Mg exclusively forms an amorphous magnesium silicate (AMS) phase. Compared to M-S-H, AMS is a more depolymerized phase, which has not previously been well documented. The formation of AMS seems to be driven by the high charge density of the Mg cation which effectively stabilizes the depolymerized silicate species. We also show that the lack of hydrotalcite-group phases is due to aluminum depletion by zeolite formation. This work highlights the need to consider the existence of the AMS phase in Mg-containing AAMs, especially in complex systems, where its identification may be difficult.
Published: 2021

17. CYP3A7*1C allele:linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

Author: Johnson, N. (Nichola), Maguire, S. (Sarah), Morra, A. (Anna), Kapoor, P. M. (Pooja Middha), Tomczyk, K. (Katarzyna), Jones, M. E. (Michael E.), Schoemaker, M. J. (Minouk J.), Gilham, C. (Clare), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Augustinsson, A. (Annelie), Baynes, C. (Caroline), Freeman, L. E. (Laura E. Beane), Beckmann, M. W. (Matthias W.), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Boeckx, B. (Bram), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Burwinkel, B. (Barbara), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Clarke, C. L. (Christine L.), Conroy, D. M. (Don M.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Doerk, T. (Thilo), Eliassen, A. H. (A. Heather), Engel, C. (Christoph), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Floris, G. (Giuseppe), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Gaudet, M. M. (Mia M.), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Harrington, P. A. (Patricia A.), Hart, S. N. (Steven N.), Hooning, M. J. (Maartje J.), Hopper, J. L. (John L.), Howell, A. (Anthony), Hunter, D. J. (David J.), Jager, A. (Agnes), Jakubowska, A. (Anna), John, E. M. (Esther M.), Kaaks, R. (Rudolf), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Kosma, V.-M. (Veli-Matti), Koutros, S. (Stella), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Linet, M. (Martha), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martens, J. W. (John W. M.), Mavroudis, D. (Dimitrios), Mayes, R. (Rebecca), Meindl, A. (Alfons), Milne, R. L. (Roger L.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Obi, N. (Nadia), Olshan, A. F. (Andrew F.), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Orban, E. (Ester), Park-Simon, T.-W. (Tjoung-Won), Peterlongo, P. (Paolo), Plaseska-Karanfilska, D. (Dijana), Pylkäs, K. (Katri), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Ruddy, K. J. (Kathryn J.), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Scott, C. (Christopher), Shu, X.-O. (Xiao-Ou), Simard, J. (Jacques), Smichkoska, S. (Snezhana), Sohn, C. (Christof), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stone, J. (Jennifer), Tamimi, R. M. (Rulla M.), Taylor, J. A. (Jack A.), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Vachon, C. M. (Celine M.), van Veen, E. M. (Elke M.), Wang, S. S. (Sophia S.), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Wildiers, H. (Hans), Winqvist, R. (Robert), Wolk, A. (Alicja), Zheng, W. (Wei), Ziogas, A. (Argyrios), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Howie, A. F. (A. Forbes), Peto, J. (Julian), dos-Santos-Silva, I. (Isabel), Swerdlow, A. J. (Anthony J.), Chang-Claude, J. (Jenny), Schmidt, M. K. (Marjanka K.), Orr, N. (Nick), Fletcher, O. (Olivia), Johnson, N. (Nichola), Maguire, S. (Sarah), Morra, A. (Anna), Kapoor, P. M. (Pooja Middha), Tomczyk, K. (Katarzyna), Jones, M. E. (Michael E.), Schoemaker, M. J. (Minouk J.), Gilham, C. (Clare), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Augustinsson, A. (Annelie), Baynes, C. (Caroline), Freeman, L. E. (Laura E. Beane), Beckmann, M. W. (Matthias W.), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Boeckx, B. (Bram), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Burwinkel, B. (Barbara), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Clarke, C. L. (Christine L.), Conroy, D. M. (Don M.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Doerk, T. (Thilo), Eliassen, A. H. (A. Heather), Engel, C. (Christoph), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Floris, G. (Giuseppe), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Gaudet, M. M. (Mia M.), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Harrington, P. A. (Patricia A.), Hart, S. N. (Steven N.), Hooning, M. J. (Maartje J.), Hopper, J. L. (John L.), Howell, A. (Anthony), Hunter, D. J. (David J.), Jager, A. (Agnes), Jakubowska, A. (Anna), John, E. M. (Esther M.), Kaaks, R. (Rudolf), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Kosma, V.-M. (Veli-Matti), Koutros, S. (Stella), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Linet, M. (Martha), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martens, J. W. (John W. M.), Mavroudis, D. (Dimitrios), Mayes, R. (Rebecca), Meindl, A. (Alfons), Milne, R. L. (Roger L.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Obi, N. (Nadia), Olshan, A. F. (Andrew F.), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Orban, E. (Ester), Park-Simon, T.-W. (Tjoung-Won), Peterlongo, P. (Paolo), Plaseska-Karanfilska, D. (Dijana), Pylkäs, K. (Katri), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Ruddy, K. J. (Kathryn J.), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Scott, C. (Christopher), Shu, X.-O. (Xiao-Ou), Simard, J. (Jacques), Smichkoska, S. (Snezhana), Sohn, C. (Christof), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stone, J. (Jennifer), Tamimi, R. M. (Rulla M.), Taylor, J. A. (Jack A.), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Vachon, C. M. (Celine M.), van Veen, E. M. (Elke M.), Wang, S. S. (Sophia S.), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Wildiers, H. (Hans), Winqvist, R. (Robert), Wolk, A. (Alicja), Zheng, W. (Wei), Ziogas, A. (Argyrios), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Howie, A. F. (A. Forbes), Peto, J. (Julian), dos-Santos-Silva, I. (Isabel), Swerdlow, A. J. (Anthony J.), Chang-Claude, J. (Jenny), Schmidt, M. K. (Marjanka K.), Orr, N. (Nick), and Fletcher, O. (Olivia)
Abstract: Background: Epidemiological studies provide strong evidence for a role of endogenous sex hormones in the aetiology of breast cancer. The aim of this analysis was to identify genetic variants that are associated with urinary sex-hormone levels and breast cancer risk. Methods: We carried out a genome-wide association study of urinary oestrone-3-glucuronide and pregnanediol-3-glucuronide levels in 560 premenopausal women, with additional analysis of progesterone levels in 298 premenopausal women. To test for the association with breast cancer risk, we carried out follow-up genotyping in 90,916 cases and 89,893 controls from the Breast Cancer Association Consortium. All women were of European ancestry. Results: For pregnanediol-3-glucuronide, there were no genome-wide significant associations; for oestrone-3-glucuronide, we identified a single peak mapping to the CYP3A locus, annotated by rs45446698. The minor rs45446698-C allele was associated with lower oestrone-3-glucuronide (−49.2%, 95% CI −56.1% to −41.1%, P = 3.1 × 10⁻¹⁸); in follow-up analyses, rs45446698-C was also associated with lower progesterone (−26.7%, 95% CI −39.4% to −11.6%, P = 0.001) and reduced risk of oestrogen and progesterone receptor-positive breast cancer (OR = 0.86, 95% CI 0.82–0.91, P = 6.9 × 10⁻¹⁸). Conclusions: The CYP3A7*1C allele is associated with reduced risk of hormone receptor-positive breast cancer possibly mediated via an effect on the metabolism of endogenous sex hormones in premenopausal women.
Published: 2021

18. Genetic association study of childhood aggression across raters, instruments, and age

Author: Ip, Hill F., van der Laan, Camiel M., Krapohl, Eva M.L., Brikell, Isabell, Sánchez-Mora, Cristina, Nolte, Ilja M., St Pourcain, Beate, Bolhuis, Koen, Palviainen, Teemu, Zafarmand, Hadi, Colodro-Conde, Lucía, Gordon, Scott, Zayats, Tetyana, Aliev, Fazil, Jiang, Chang, Wang, Carol A., Saunders, Gretchen, Karhunen, Ville, Hammerschlag, Anke R., Adkins, Daniel E., Border, Richard, Peterson, Roseann E., Prinz, Joseph A., Thiering, Elisabeth, Seppälä, Ilkka, Vilor-Tejedor, Natàlia, Ahluwalia, Tarunveer S., Day, Felix R., Hottenga, Jouke Jan, Allegrini, Andrea G., Rimfeld, Kaili, Chen, Qi, Lu, Yi, Martin, Joanna, Soler Artigas, María, Rovira, Paula, Bosch, Rosa, Español, Gemma, Ramos Quiroga, Josep Antoni, Neumann, Alexander, Ensink, Judith, Grasby, Katrina, Morosoli, José J., Tong, Xiaoran, Marrington, Shelby, Middeldorp, Christel, Scott, James G., Vinkhuyzen, Anna, Shabalin, Andrey A., Corley, Robin, Evans, Luke M., Sugden, Karen, Alemany, Silvia, Sass, Lærke, Vinding, Rebecca, Ruth, Kate, Tyrrell, Jess, Davies, Gareth E., Ehli, Erik A., Hagenbeek, Fiona A., De Zeeuw, Eveline, Van Beijsterveldt, Toos C.E.M., Larsson, Henrik, Snieder, Harold, Verhulst, Frank C., Amin, Najaf, Whipp, Alyce M., Korhonen, Tellervo, Vuoksimaa, Eero, Rose, Richard J., Uitterlinden, André G., Heath, Andrew C., Madden, Pamela, Haavik, Jan, Harris, Jennifer R., Helgeland, Øyvind, Johansson, Stefan, Knudsen, Gun Peggy S., Njolstad, Pal Rasmus, Lu, Qing, Rodriguez, Alina, Henders, Anjali K., Mamun, Abdullah, Najman, Jackob M., Brown, Sandy, Hopfer, Christian, Krauter, Kenneth, Reynolds, Chandra, Smolen, Andrew, Stallings, Michael, Wadsworth, Sally, Wall, Tamara L., Silberg, Judy L., Miller, Allison, Keltikangas-Järvinen, Liisa, Hakulinen, Christian, Pulkki-Råback, Laura, Havdahl, Alexandra, Magnus, Per, Raitakari, Olli T., Perry, John R.B., Llop, Sabrina, Lopez-Espinosa, Maria Jose, Bønnelykke, Klaus, Bisgaard, Hans, Sunyer, Jordi, Lehtimäki, Terho, Arseneault, Louise, Standl, Marie, Heinrich, Joachim, Boden, Joseph, Pearson, John, Horwood, L. John, Kennedy, Martin, Poulton, Richie, Eaves, Lindon J., Maes, Hermine H., Hewitt, John, Copeland, William E., Costello, Elizabeth J., Williams, Gail M., Wray, Naomi, Järvelin, Marjo Riitta, McGue, Matt, Iacono, William, Caspi, Avshalom, Moffitt, Terrie E., Whitehouse, Andrew, Pennell, Craig E., Klump, Kelly L., Burt, S. Alexandra, Dick, Danielle M., Reichborn-Kjennerud, Ted, Martin, Nicholas G., Medland, Sarah E., Vrijkotte, Tanja, Kaprio, Jaakko, Tiemeier, Henning, Davey Smith, George, Hartman, Catharina A., Oldehinkel, Albertine J., Casas, Miquel, Ribasés, Marta, Lichtenstein, Paul, Lundström, Sebastian, Plomin, Robert, Bartels, Meike, Nivard, Michel G., Boomsma, Dorret I., Ip, Hill F., van der Laan, Camiel M., Krapohl, Eva M.L., Brikell, Isabell, Sánchez-Mora, Cristina, Nolte, Ilja M., St Pourcain, Beate, Bolhuis, Koen, Palviainen, Teemu, Zafarmand, Hadi, Colodro-Conde, Lucía, Gordon, Scott, Zayats, Tetyana, Aliev, Fazil, Jiang, Chang, Wang, Carol A., Saunders, Gretchen, Karhunen, Ville, Hammerschlag, Anke R., Adkins, Daniel E., Border, Richard, Peterson, Roseann E., Prinz, Joseph A., Thiering, Elisabeth, Seppälä, Ilkka, Vilor-Tejedor, Natàlia, Ahluwalia, Tarunveer S., Day, Felix R., Hottenga, Jouke Jan, Allegrini, Andrea G., Rimfeld, Kaili, Chen, Qi, Lu, Yi, Martin, Joanna, Soler Artigas, María, Rovira, Paula, Bosch, Rosa, Español, Gemma, Ramos Quiroga, Josep Antoni, Neumann, Alexander, Ensink, Judith, Grasby, Katrina, Morosoli, José J., Tong, Xiaoran, Marrington, Shelby, Middeldorp, Christel, Scott, James G., Vinkhuyzen, Anna, Shabalin, Andrey A., Corley, Robin, Evans, Luke M., Sugden, Karen, Alemany, Silvia, Sass, Lærke, Vinding, Rebecca, Ruth, Kate, Tyrrell, Jess, Davies, Gareth E., Ehli, Erik A., Hagenbeek, Fiona A., De Zeeuw, Eveline, Van Beijsterveldt, Toos C.E.M., Larsson, Henrik, Snieder, Harold, Verhulst, Frank C., Amin, Najaf, Whipp, Alyce M., Korhonen, Tellervo, Vuoksimaa, Eero, Rose, Richard J., Uitterlinden, André G., Heath, Andrew C., Madden, Pamela, Haavik, Jan, Harris, Jennifer R., Helgeland, Øyvind, Johansson, Stefan, Knudsen, Gun Peggy S., Njolstad, Pal Rasmus, Lu, Qing, Rodriguez, Alina, Henders, Anjali K., Mamun, Abdullah, Najman, Jackob M., Brown, Sandy, Hopfer, Christian, Krauter, Kenneth, Reynolds, Chandra, Smolen, Andrew, Stallings, Michael, Wadsworth, Sally, Wall, Tamara L., Silberg, Judy L., Miller, Allison, Keltikangas-Järvinen, Liisa, Hakulinen, Christian, Pulkki-Råback, Laura, Havdahl, Alexandra, Magnus, Per, Raitakari, Olli T., Perry, John R.B., Llop, Sabrina, Lopez-Espinosa, Maria Jose, Bønnelykke, Klaus, Bisgaard, Hans, Sunyer, Jordi, Lehtimäki, Terho, Arseneault, Louise, Standl, Marie, Heinrich, Joachim, Boden, Joseph, Pearson, John, Horwood, L. John, Kennedy, Martin, Poulton, Richie, Eaves, Lindon J., Maes, Hermine H., Hewitt, John, Copeland, William E., Costello, Elizabeth J., Williams, Gail M., Wray, Naomi, Järvelin, Marjo Riitta, McGue, Matt, Iacono, William, Caspi, Avshalom, Moffitt, Terrie E., Whitehouse, Andrew, Pennell, Craig E., Klump, Kelly L., Burt, S. Alexandra, Dick, Danielle M., Reichborn-Kjennerud, Ted, Martin, Nicholas G., Medland, Sarah E., Vrijkotte, Tanja, Kaprio, Jaakko, Tiemeier, Henning, Davey Smith, George, Hartman, Catharina A., Oldehinkel, Albertine J., Casas, Miquel, Ribasés, Marta, Lichtenstein, Paul, Lundström, Sebastian, Plomin, Robert, Bartels, Meike, Nivard, Michel G., and Boomsma, Dorret I.
Abstract: Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. We also meta-analyzed within subsets of the data, i.e., within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGGoverall) was 3.31% (SE = 0.0038). We found no genome-wide significant SNPs for AGGoverall. The gene-based analysis returned three significant genes: ST3GAL3 (P = 1.6E–06), PCDH7 (P = 2.0E–06), and IPO13 (P = 2.5E–06). All three genes have previously been associated with educational traits. Polygenic scores based on our GWAMA significantly predicted aggression in a holdout sample of children (variance explained = 0.44%) and in retrospectively assessed childhood aggression (variance explained = 0.20%). Genetic correlations (rg) among rater-specific assessment of AGG ranged from rg = 0.46 between self- and teacher-assessment to rg = 0.81 between mother- and teacher-assessment. We obtained moderate-to-strong rgs with selected phenotypes from multiple domains, but hardly with any of the classical biomarkers thought to be associated with AGG. Significant genetic correlations were observed with most psychiatric and psychological traits (range ∣ rg∣ : 0.19–1.00), except for obsessive-compulsive disorder. Aggression had a negative genetic correlation (rg = ~−0.5) with cognitive traits and age at first birth. Aggression was strongly genetically correlated with smoking phenotypes (range ∣ rg∣ : 0.46–0.60). The genetic correlations between aggression and psychiatric disorders were weaker for teacher-reported AGG than for mother- an
Published: 2021

19. Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease

Author: Bryois, Julien, Skene, Nathan G., Hansen, Thomas Folkmann, Kogelman, Lisette J.A., Watson, Hunna J., Liu, Zijing, Adan, Roger, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole, Baker, Jessica, Bergen, Andrew, Berrettini, Wade, Birgegård, Andreas, Boden, Joseph, Boehm, Ilka, Boni, Claudette, Boraska Perica, Vesna, Brandt, Harry, Breen, Gerome, Buehren, Katharina, Bulik, Cynthia, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Coleman, Jonathan, Cone, Roger, Courtet, Philippe, Crawford, Steven, Crow, Scott, Crowley, James, Danner, Unna, Davis, Oliver, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece, Dick, Danielle, Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo Martinez, Elisa, Duncan, Laramie, Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred, Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas, Forzan, Monica, Franklin, Christopher, Gallinger, Steven, Gaspar, Héléna, Giegling, Ina, Giuranna, Johanna, Giusti-Rodríquez, Paola, Gonidakis, Fragiskos, Gordon, Scott, Gorwood, Philip, Gratacos Mayora, Monica, Grove, Jakob, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Halmi, Katherine, Hanscombe, Ken, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske, Henders, Anjali, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Horwood, L. John, Hübel, Christopher, Huckins, Laura, Hudson, James, Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Johnson, Craig, Jordan, Jennifer, Julià, Antonio, Juréus, Anders, Kalsi, Gursharan, Kaminská, Deborah, Kaplan, Allan, Kaprio, Jaakko, Karhunen, Leila, Karwautz, Andreas, Kas, Martien, Kaye, Walter, Kennedy, James, Kennedy, Martin, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl Ri, Kirk, Katherine, Klareskog, Lars, Klump, Kelly, Knudsen, Gun Peggy, La Via, Maria, Landén, Mikael, Larsen, Janne, Le Hellard, Stephanie, Leppä, Virpi, Levitan, Robert, Li, Dong, Lichtenstein, Paul, Lilenfeld, Lisa, Lin, Bochao Danae, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre, Maj, Mario, Mannik, Katrin, Marsal, Sara, Marshall, Christian, Martin, Nicholas, Mattheisen, Manuel, Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Medland, Sarah, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, James, Mitchell, Karen, Monteleone, Palmiero, Monteleone, Alessio Maria, Montgomery, Grant, Mortensen, Preben Bo, Munn-Chernoff, Melissa, Nacmias, Benedetta, Navratilova, Marie, Norring, Claes, Ntalla, Ioanna, Olsen, Catherine, Ophoff, Roel, O’Toole, Julie, Padyukov, Leonid, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Parker, Richard, Pearson, John, Pedersen, Nancy, Petersen, Liselotte, Pinto, Dalila, Purves, Kirstin, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ripke, Stephan, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Scherer, Stephen, Schmidt, Ulrike, Schork, Nicholas, Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P. Eline, Slof-Op ‘t Landt, Margarita, Slopien, Agnieszka, Sorbi, Sandro, Strober, Michael, Stuber, Garret, Sullivan, Patrick, Świątkowska, Beata, Szatkiewicz, Jin, Tachmazidou, Ioanna, Tenconi, Elena, Thornton, Laura, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie, van Furth, Eric, Wade, Tracey, Wagner, Gudrun, Walton, Esther, Watson, Hunna, Werge, Thomas, Whiteman, David, Widen, Elisabeth, Woodside, D. Blake, Yao, Shuyang, Yilmaz, Zeynep, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Anttila, Verneri, Artto, Ville, Belin, Andrea Carmine, de Boer, Irene, Boomsma, Dorret I., Børte, Sigrid, Chasman, Daniel I., Cherkas, Lynn, Christensen, Anne Francke, Cormand, Bru, Cuenca-Leon, Ester, Davey-Smith, George, Dichgans, Martin, van Duijn, Cornelia, Esko, Tonu, Esserlind, Ann Louise, Ferrari, Michel, Frants, Rune R., Freilinger, Tobias, Furlotte, Nick, Gormley, Padhraig, Griffiths, Lyn, Hamalainen, Eija, Hiekkala, Marjo, Ikram, M. Arfan, Ingason, Andres, Järvelin, Marjo Riitta, Kajanne, Risto, Maagdenberg, Arn van den, Nyholt, Dale R., Zhao, Huiying, Bell, Robert, Wilson, Catherine, other, and, Bryois, Julien, Skene, Nathan G., Hansen, Thomas Folkmann, Kogelman, Lisette J.A., Watson, Hunna J., Liu, Zijing, Adan, Roger, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole, Baker, Jessica, Bergen, Andrew, Berrettini, Wade, Birgegård, Andreas, Boden, Joseph, Boehm, Ilka, Boni, Claudette, Boraska Perica, Vesna, Brandt, Harry, Breen, Gerome, Buehren, Katharina, Bulik, Cynthia, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Coleman, Jonathan, Cone, Roger, Courtet, Philippe, Crawford, Steven, Crow, Scott, Crowley, James, Danner, Unna, Davis, Oliver, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece, Dick, Danielle, Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo Martinez, Elisa, Duncan, Laramie, Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred, Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas, Forzan, Monica, Franklin, Christopher, Gallinger, Steven, Gaspar, Héléna, Giegling, Ina, Giuranna, Johanna, Giusti-Rodríquez, Paola, Gonidakis, Fragiskos, Gordon, Scott, Gorwood, Philip, Gratacos Mayora, Monica, Grove, Jakob, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Halmi, Katherine, Hanscombe, Ken, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske, Henders, Anjali, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Horwood, L. John, Hübel, Christopher, Huckins, Laura, Hudson, James, Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Johnson, Craig, Jordan, Jennifer, Julià, Antonio, Juréus, Anders, Kalsi, Gursharan, Kaminská, Deborah, Kaplan, Allan, Kaprio, Jaakko, Karhunen, Leila, Karwautz, Andreas, Kas, Martien, Kaye, Walter, Kennedy, James, Kennedy, Martin, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl Ri, Kirk, Katherine, Klareskog, Lars, Klump, Kelly, Knudsen, Gun Peggy, La Via, Maria, Landén, Mikael, Larsen, Janne, Le Hellard, Stephanie, Leppä, Virpi, Levitan, Robert, Li, Dong, Lichtenstein, Paul, Lilenfeld, Lisa, Lin, Bochao Danae, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre, Maj, Mario, Mannik, Katrin, Marsal, Sara, Marshall, Christian, Martin, Nicholas, Mattheisen, Manuel, Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Medland, Sarah, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, James, Mitchell, Karen, Monteleone, Palmiero, Monteleone, Alessio Maria, Montgomery, Grant, Mortensen, Preben Bo, Munn-Chernoff, Melissa, Nacmias, Benedetta, Navratilova, Marie, Norring, Claes, Ntalla, Ioanna, Olsen, Catherine, Ophoff, Roel, O’Toole, Julie, Padyukov, Leonid, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Parker, Richard, Pearson, John, Pedersen, Nancy, Petersen, Liselotte, Pinto, Dalila, Purves, Kirstin, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ripke, Stephan, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Scherer, Stephen, Schmidt, Ulrike, Schork, Nicholas, Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P. Eline, Slof-Op ‘t Landt, Margarita, Slopien, Agnieszka, Sorbi, Sandro, Strober, Michael, Stuber, Garret, Sullivan, Patrick, Świątkowska, Beata, Szatkiewicz, Jin, Tachmazidou, Ioanna, Tenconi, Elena, Thornton, Laura, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie, van Furth, Eric, Wade, Tracey, Wagner, Gudrun, Walton, Esther, Watson, Hunna, Werge, Thomas, Whiteman, David, Widen, Elisabeth, Woodside, D. Blake, Yao, Shuyang, Yilmaz, Zeynep, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Anttila, Verneri, Artto, Ville, Belin, Andrea Carmine, de Boer, Irene, Boomsma, Dorret I., Børte, Sigrid, Chasman, Daniel I., Cherkas, Lynn, Christensen, Anne Francke, Cormand, Bru, Cuenca-Leon, Ester, Davey-Smith, George, Dichgans, Martin, van Duijn, Cornelia, Esko, Tonu, Esserlind, Ann Louise, Ferrari, Michel, Frants, Rune R., Freilinger, Tobias, Furlotte, Nick, Gormley, Padhraig, Griffiths, Lyn, Hamalainen, Eija, Hiekkala, Marjo, Ikram, M. Arfan, Ingason, Andres, Järvelin, Marjo Riitta, Kajanne, Risto, Maagdenberg, Arn van den, Nyholt, Dale R., Zhao, Huiying, Bell, Robert, Wilson, Catherine, and other, and
Abstract: Genome-wide association studies have discovered hundreds of loci associated with complex brain disorders, but it remains unclear in which cell types these loci are active. Here we integrate genome-wide association study results with single-cell transcriptomic data from the entire mouse nervous system to systematically identify cell types underlying brain complex traits. We show that psychiatric disorders are predominantly associated with projecting excitatory and inhibitory neurons. Neurological diseases were associated with different cell types, which is consistent with other lines of evidence. Notably, Parkinson’s disease was genetically associated not only with cholinergic and monoaminergic neurons (which include dopaminergic neurons) but also with enteric neurons and oligodendrocytes. Using post-mortem brain transcriptomic data, we confirmed alterations in these cells, even at the earliest stages of disease progression. Our study provides an important framework for understanding the cellular basis of complex brain maladies, and reveals an unexpected role of oligodendrocytes in Parkinson’s disease.
Published: 2020

20. Towards designing reactive glasses for alkali activation:understanding the origins of alkaline reactivity of Na-Mg aluminosilicate glasses

Author: Sreenivasan, H. (Harisankar), Cao, W. (Wei), Hu, Y. (Yongfeng), Xiao, Q. (Qunfeng), Shakouri, M. (Mohsen), Huttula, M. (Marko), Provis, J. L. (John L.), Illikainen, M. (Mirja), Kinnunen, P. (Paivo), Sreenivasan, H. (Harisankar), Cao, W. (Wei), Hu, Y. (Yongfeng), Xiao, Q. (Qunfeng), Shakouri, M. (Mohsen), Huttula, M. (Marko), Provis, J. L. (John L.), Illikainen, M. (Mirja), and Kinnunen, P. (Paivo)
Abstract: Alkali-activated materials (AAMs), sometimes called geopolymers, are eco-friendly cementitious materials with reduced carbon emissions when compared to ordinary Portland cement. However, the availability of most precursors used for AAM production may decline in the future because of changes in industrial sectors. Thus, new precursors must be developed. Recently there has been increased interest in synthetic glass precursors. One major concern with using synthetic glasses is ensuring that they react sufficiently under alkaline conditions. Reactivity is a necessary, although not sufficient, requirement for a suitable precursor for AAMs. This work involves the synthesis, characterization, and estimation of alkaline reactivity of Na-Mg aluminosilicate glasses. Structural characterization showed that replacing Na with Mg led to more depolymerization. Alkaline reactivity studies indicated that, as Mg replaced Na, reactivity of glasses increased at first, reached an optimal value, and then declined. This trend in reactivity could not be explained by the conventional parameters used for estimating glass reactivity: the non-bridging oxygen fraction (which predicts similar reactivity for all glasses) and optical basicity (which predicts a decrease in reactivity with an increase in Mg replacement). The reactivity of the studied glasses was found to depend on two main factors: depolymerization (as indicated by structural characterization) and optical basicity. Depolymerization dominated initially, which led to an increase in reactivity, while the effect of optical basicity dominated later, leading to a decrease in reactivity. Hence, while designing reactive synthetic glasses for alkali activation, structural study of glasses should be given due consideration in addition to the conventional factors.
Published: 2020

21. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Author: Zhang, H. (Haoyu), Ahearn, T. U. (Thomas U.), Lecarpentier, J. (Julie), Barnes, D. (Daniel), Beesley, J. (Jonathan), Qi, G. (Guanghao), Hang, X. (Xia), O'Mara, T. A. (Tracy A.), Zhao, N. (Ni), Bolla, M. K. (Manjeet K.), Dunning, A. M. (Alison M.), Dennis, J. (Joe), Wang, Q. (Qin), Abu Ful, Z. (Zumuruda), Aittomaki, K. (Kristiina), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Arun, B. K. (Banu K.), Auer, P. L. (Paul L.), Azzollini, J. (Jacopo), Barrowdale, D. (Daniel), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bialkowska, K. (Katarzyna), Blanco, A. (Ana), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Bondavalli, D. (Davide), Borg, A. (Ake), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Briceno, I. (Ignacio), Broeks, A. (Annegien), Brucker, S. Y. (Sara Y.), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Buys, S. S. (Saundra S.), Byers, H. (Helen), Caldes, T. (Trinidad), Caligo, M. A. (Maria A.), Calvello, M. (Mariarosaria), Campa, D. (Daniele), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Christiaens, M. (Melissa), Christiansen, H. (Hans), Chung, W. K. (Wendy K.), Claes, K. B. (Kathleen B. M.), Clarke, C. L. (Christine L.), Cornelissen, S. (Sten), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Diez, O. (Orland), Domchek, S. M. (Susan M.), Doerk, T. (Thilo), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Foretova, L. (Lenka), Fostira, F. (Florentia), Friedman, E. (Eitan), Frost, D. (Debra), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garber, J. (Judy), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Gayther, S. A. (Simon A.), Giles, G. G. (Graham G.), Godwin, A. K. (Andrew K.), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Greene, M. H. (Mark H.), Gronwald, J. (Jacek), Guenel, P. (Pascal), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hake, C. R. (Christopher R.), Hall, P. (Per), Hamann, U. (Ute), Harkness, E. F. (Elaine F.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Hillemanns, P. (Peter), Hogervorst, F. B. (Frans B. L.), Holleczek, B. (Bernd), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huebner, H. (Hanna), Hulick, P. J. (Peter J.), Imyanitov, E. N. (Evgeny N.), Isaacs, C. (Claudine), Izatt, L. (Louise), Jager, A. (Agnes), Jakimovska, M. (Milena), Jakubowska, A. (Anna), James, P. (Paul), Janavicius, R. (Ramunas), Janni, W. (Wolfgang), John, E. M. (Esther M.), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kapoor, P. M. (Pooja Middha), Karlan, B. Y. (Beth Y.), Keeman, R. (Renske), Khan, S. (Sofia), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Ko, Y.-D. (Yon-Dschun), Konstantopoulou, I. (Irene), Koppert, L. B. (Linetta B.), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Laenkholm, A.-V. (Anne-Vibeke), Lambrechts, D. (Diether), Larsson, S. C. (Susanna C.), Laurent-Puig, P. (Pierre), Lazaro, C. (Conxi), Lazarova, E. (Emilija), Lejbkowicz, F. (Flavio), Leslie, G. (Goska), Lesueur, F. (Fabienne), Lindblom, A. (Annika), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loud, J. T. (Jennifer T.), Lubinski, J. (Jan), Lukomska, A. (Alicja), Maclnnis, R. J. (Robert J.), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), Matricardi, L. (Laura), McGuffog, L. (Lesley), McLean, C. (Catriona), Mebirouk, N. (Noura), Meindl, A. (Alfons), Menon, U. (Usha), Miller, A. (Austin), Mingazheva, E. (Elvira), Montagna, M. (Marco), Mulligan, A. M. (Anna Marie), Mulot, C. (Claire), Muranen, T. A. (Taru A.), Nathanson, K. L. (Katherine L.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Newman, W. G. (William G.), Nielsens, F. C. (Finn C.), Nikitina-Zake, L. (Liene), Nodora, J. (Jesse), Offit, K. (Kenneth), Olah, E. (Edith), Olopade, O. I. (Olufunmilayo, I), Olsson, H. (Hakan), Orr, N. (Nick), Papi, L. (Laura), Papp, J. (Janos), Park-Simon, T.-W. (Tjoung-Won), Parsons, M. T. (Michael T.), Peissel, B. (Bernard), Peixoto, A. (Ana), Peshkin, B. (Beth), Peterlongo, P. (Paolo), Peto, J. (Julian), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Plaseska-Karanfilska, D. (Dijana), Prajzendanc, K. (Karolina), Prentice, R. (Ross), Prokofyeva, D. (Darya), Rack, B. (Brigitte), Radice, P. (Paolo), Ramus, S. J. (Susan J.), Rantala, J. (Johanna), Rashid, M. U. (Muhammad U.), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Risch, H. A. (Harvey A.), Romero, A. (Atocha), Rookus, M. A. (Matti A.), Ruebner, M. (Matthias), Ruediger, T. (Thomas), Saloustros, E. (Emmanouil), Sampson, S. (Sarah), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Scheuner, M. T. (Maren T.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Schoettker, B. (Ben), Schuermann, P. (Peter), Senter, L. (Leigha), Sharma, P. (Priyanka), Sherman, M. E. (Mark E.), Shu, X.-O. (Xiao-Ou), Singer, C. F. (Christian F.), Smichkoska, S. (Snezhana), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stone, J. (Jennifer), Stoppa-Lyonnet, D. (Dominique), Swerdlow, A. J. (Anthony J.), Szabo, C. I. (Csilla, I), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teixeira, M. R. (Manuel R.), Terry, M. (MaryBeth), Thomassen, M. (Mads), Thull, D. L. (Darcy L.), Tischkowitz, M. (Marc), Toland, A. E. (Amanda E.), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Torres, D. (Diana), Troester, M. A. (Melissa A.), Truong, T. (Therese), Tung, N. (Nadine), Untch, M. (Michael), Vachon, C. M. (Celine M.), van den Ouweland, A. M. (Ans M. W.), van der Kolk, L. E. (Lizet E.), van Veen, E. M. (Elke M.), vanRensburg, E. J. (Elizabeth J.), Vega, A. (Ana), Wappenschmidt, B. (Barbara), Weinberg, C. R. (Clarice R.), Weitzel, J. N. (Jeffrey N.), Wildiers, H. (Hans), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Zorn, K. K. (Kristin K.), Milne, R. L. (Roger L.), Kraft, P. (Peter), Simard, J. (Jacques), Pharoah, P. D. (Paul D. P.), Michailidou, K. (Kyriaki), Antoniou, A. C. (Antonis C.), Schmidt, M. K. (Marjanka K.), Chenevix-Trench, G. (Georgia), Easton, D. F. (Douglas F.), Chatterjee, N. (Nilanjan), Garcia-Closas, M. (Montserrat), Zhang, H. (Haoyu), Ahearn, T. U. (Thomas U.), Lecarpentier, J. (Julie), Barnes, D. (Daniel), Beesley, J. (Jonathan), Qi, G. (Guanghao), Hang, X. (Xia), O'Mara, T. A. (Tracy A.), Zhao, N. (Ni), Bolla, M. K. (Manjeet K.), Dunning, A. M. (Alison M.), Dennis, J. (Joe), Wang, Q. (Qin), Abu Ful, Z. (Zumuruda), Aittomaki, K. (Kristiina), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Arun, B. K. (Banu K.), Auer, P. L. (Paul L.), Azzollini, J. (Jacopo), Barrowdale, D. (Daniel), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bialkowska, K. (Katarzyna), Blanco, A. (Ana), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Bondavalli, D. (Davide), Borg, A. (Ake), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Briceno, I. (Ignacio), Broeks, A. (Annegien), Brucker, S. Y. (Sara Y.), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Buys, S. S. (Saundra S.), Byers, H. (Helen), Caldes, T. (Trinidad), Caligo, M. A. (Maria A.), Calvello, M. (Mariarosaria), Campa, D. (Daniele), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Christiaens, M. (Melissa), Christiansen, H. (Hans), Chung, W. K. (Wendy K.), Claes, K. B. (Kathleen B. M.), Clarke, C. L. (Christine L.), Cornelissen, S. (Sten), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Diez, O. (Orland), Domchek, S. M. (Susan M.), Doerk, T. (Thilo), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Foretova, L. (Lenka), Fostira, F. (Florentia), Friedman, E. (Eitan), Frost, D. (Debra), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garber, J. (Judy), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Gayther, S. A. (Simon A.), Giles, G. G. (Graham G.), Godwin, A. K. (Andrew K.), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Greene, M. H. (Mark H.), Gronwald, J. (Jacek), Guenel, P. (Pascal), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hake, C. R. (Christopher R.), Hall, P. (Per), Hamann, U. (Ute), Harkness, E. F. (Elaine F.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Hillemanns, P. (Peter), Hogervorst, F. B. (Frans B. L.), Holleczek, B. (Bernd), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huebner, H. (Hanna), Hulick, P. J. (Peter J.), Imyanitov, E. N. (Evgeny N.), Isaacs, C. (Claudine), Izatt, L. (Louise), Jager, A. (Agnes), Jakimovska, M. (Milena), Jakubowska, A. (Anna), James, P. (Paul), Janavicius, R. (Ramunas), Janni, W. (Wolfgang), John, E. M. (Esther M.), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kapoor, P. M. (Pooja Middha), Karlan, B. Y. (Beth Y.), Keeman, R. (Renske), Khan, S. (Sofia), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Ko, Y.-D. (Yon-Dschun), Konstantopoulou, I. (Irene), Koppert, L. B. (Linetta B.), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Laenkholm, A.-V. (Anne-Vibeke), Lambrechts, D. (Diether), Larsson, S. C. (Susanna C.), Laurent-Puig, P. (Pierre), Lazaro, C. (Conxi), Lazarova, E. (Emilija), Lejbkowicz, F. (Flavio), Leslie, G. (Goska), Lesueur, F. (Fabienne), Lindblom, A. (Annika), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loud, J. T. (Jennifer T.), Lubinski, J. (Jan), Lukomska, A. (Alicja), Maclnnis, R. J. (Robert J.), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), Matricardi, L. (Laura), McGuffog, L. (Lesley), McLean, C. (Catriona), Mebirouk, N. (Noura), Meindl, A. (Alfons), Menon, U. (Usha), Miller, A. (Austin), Mingazheva, E. (Elvira), Montagna, M. (Marco), Mulligan, A. M. (Anna Marie), Mulot, C. (Claire), Muranen, T. A. (Taru A.), Nathanson, K. L. (Katherine L.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Newman, W. G. (William G.), Nielsens, F. C. (Finn C.), Nikitina-Zake, L. (Liene), Nodora, J. (Jesse), Offit, K. (Kenneth), Olah, E. (Edith), Olopade, O. I. (Olufunmilayo, I), Olsson, H. (Hakan), Orr, N. (Nick), Papi, L. (Laura), Papp, J. (Janos), Park-Simon, T.-W. (Tjoung-Won), Parsons, M. T. (Michael T.), Peissel, B. (Bernard), Peixoto, A. (Ana), Peshkin, B. (Beth), Peterlongo, P. (Paolo), Peto, J. (Julian), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Plaseska-Karanfilska, D. (Dijana), Prajzendanc, K. (Karolina), Prentice, R. (Ross), Prokofyeva, D. (Darya), Rack, B. (Brigitte), Radice, P. (Paolo), Ramus, S. J. (Susan J.), Rantala, J. (Johanna), Rashid, M. U. (Muhammad U.), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Risch, H. A. (Harvey A.), Romero, A. (Atocha), Rookus, M. A. (Matti A.), Ruebner, M. (Matthias), Ruediger, T. (Thomas), Saloustros, E. (Emmanouil), Sampson, S. (Sarah), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Scheuner, M. T. (Maren T.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Schoettker, B. (Ben), Schuermann, P. (Peter), Senter, L. (Leigha), Sharma, P. (Priyanka), Sherman, M. E. (Mark E.), Shu, X.-O. (Xiao-Ou), Singer, C. F. (Christian F.), Smichkoska, S. (Snezhana), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stone, J. (Jennifer), Stoppa-Lyonnet, D. (Dominique), Swerdlow, A. J. (Anthony J.), Szabo, C. I. (Csilla, I), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teixeira, M. R. (Manuel R.), Terry, M. (MaryBeth), Thomassen, M. (Mads), Thull, D. L. (Darcy L.), Tischkowitz, M. (Marc), Toland, A. E. (Amanda E.), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Torres, D. (Diana), Troester, M. A. (Melissa A.), Truong, T. (Therese), Tung, N. (Nadine), Untch, M. (Michael), Vachon, C. M. (Celine M.), van den Ouweland, A. M. (Ans M. W.), van der Kolk, L. E. (Lizet E.), van Veen, E. M. (Elke M.), vanRensburg, E. J. (Elizabeth J.), Vega, A. (Ana), Wappenschmidt, B. (Barbara), Weinberg, C. R. (Clarice R.), Weitzel, J. N. (Jeffrey N.), Wildiers, H. (Hans), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Zorn, K. K. (Kristin K.), Milne, R. L. (Roger L.), Kraft, P. (Peter), Simard, J. (Jacques), Pharoah, P. D. (Paul D. P.), Michailidou, K. (Kyriaki), Antoniou, A. C. (Antonis C.), Schmidt, M. K. (Marjanka K.), Chenevix-Trench, G. (Georgia), Easton, D. F. (Douglas F.), Chatterjee, N. (Nilanjan), and Garcia-Closas, M. (Montserrat)
Abstract: Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P < 5.0 × 10−8), 15 of which showed evidence for associations with at least one tumor feature (false discovery rate < 0.05). Five loci showed associations (P < 0.05) in opposite directions between luminal and non-luminal subtypes. In silico analyses showed that these five loci contained cell-specific enhancers that differed between normal luminal and basal mammary cells. The genetic correlations between five intrinsic-like subtypes ranged from 0.35 to 0.80. The proportion of genome-wide chip heritability explained by all known susceptibility loci was 54.2% for luminal A-like disease and 37.6% for triple-negative disease. The odds ratios of polygenic risk scores, which included 330 variants, for the highest 1% of quantiles compared with middle quantiles were 5.63 and 3.02 for luminal A-like and triple-negative disease, respectively. These findings provide an improved understanding of genetic predisposition to breast cancer subtypes and will inform the development of subtype-specific polygenic risk scores.
Published: 2020

22. Field strength of network-modifying cation dictates the structure of (Na-Mg) aluminosilicate glasses

Author: Sreenivasan, H. (Harisankar), Kinnunen, P. (Päivö), Adesanya, E. (Elijah), Patanen, M. (Minna), Kantola, A. M. (Anu M.), Telkki, V.-V. (Ville-Veikko), Huttula, M. (Marko), Cao, W. (Wei), Provis, J. L. (John L.), Illikainen, M. (Mirja), Sreenivasan, H. (Harisankar), Kinnunen, P. (Päivö), Adesanya, E. (Elijah), Patanen, M. (Minna), Kantola, A. M. (Anu M.), Telkki, V.-V. (Ville-Veikko), Huttula, M. (Marko), Cao, W. (Wei), Provis, J. L. (John L.), and Illikainen, M. (Mirja)
Abstract: Aluminosilicate glasses are materials with a wide range of technological applications. The field strength of network-modifying cations strongly influences the structure of aluminosilicate glasses and their suitability for various applications. In this work, we study the influence of the field strength of network-modifying cations on the structure of [(Na₂O)1–x(MgO)ₓ(Al₂O₃)0·25(SiO₂)1·25] glasses. Due to the higher cation field strength of magnesium than sodium, magnesium prefers the role of network modifier, while sodium preferentially acts as a charge compensator. When magnesium replaces sodium as network modifier, Q³ silicon species are converted into Q² species. The replacement of sodium with magnesium as charge compensator leads to the following changes: (1) the proportion of aluminum-rich Q⁴ species [Q⁴(4Al) and Q⁴(3Al)] decreases, while the proportion of aluminum-deficient Q⁴ species [Q⁴(2Al) and Q⁴(1Al)] increases; and (2) there is an increased tendency for phase separation between silica-rich and alumina-rich glasses.
Published: 2020

23. A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

Author: Escala-Garcia, M. (Maria), Abraham, J. (Jean), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Ashworth, A. (Alan), Auer, P. L. (Paul L.), Auvinen, P. (Paivi), Beckmann, M. W. (Matthias W.), Beesley, J. (Jonathan), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Blot, W. (William), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Canzian, F. (Federico), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chin, S.-F. (Suet-Feung), Clarke, C. L. (Christine L.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Devilee, P. (Peter), Dunn, J. A. (Janet A.), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Earl, H. M. (Helena M.), Eccles, D. M. (Diana M.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), George, A. (Angela), Giles, G. G. (Graham G.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Grip, M. (Mervi), Guenel, P. (Pascal), Guo, Q. (Qi), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hamann, U. (Ute), Harrington, P. A. (Patricia A.), Hiller, L. (Louise), Hooning, M. J. (Maartje J.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, C.-S. (Chiun-Sheng), Huang, G. (Guanmengqian), Hunter, D. J. (David J.), Jakubowska, A. (Anna), John, E. M. (Esther M.), Kaaks, R. (Rudolf), Kapoor, P. M. (Pooja Middha), Keeman, R. (Renske), Kitahara, C. M. (Cari M.), Koppert, L. B. (Linetta B.), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lejbkowicz, F. (Flavio), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), Maurer, T. (Tabea), Mavroudis, D. (Dimitrios), Meindl, A. (Alfons), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Olshan, A. F. (Andrew F.), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Orr, N. (Nick), Peterlongo, P. (Paolo), Petridis, C. (Christos), Prentice, R. L. (Ross L.), Presneau, N. (Nadege), Punie, K. (Kevin), Ramachandran, D. (Dhanya), Rennert, G. (Gad), Romero, A. (Atocha), Sachchithananthan, M. (Mythily), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schwentner, L. (Lukas), Scott, C. (Christopher), Simard, J. (Jacques), Sohn, C. (Christof), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teixeira, M. R. (Manuel R.), Terry, M. B. (Mary Beth), Thorne, H. (Heather), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Turnbull, C. (Clare), Vachon, C. M. (Celine M.), van der Kolk, L. E. (Lizet E.), Wang, Q. (Qin), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Ziogas, A. (Argyrios), Pharoah, P. D. (Paul D. P.), Hall, P. (Per), Wessels, L. F. (Lodewyk F. A.), Chenevix-Trench, G. (Georgia), Bader, G. D. (Gary D.), Doerk, T. (Thilo), Easton, D. F. (Douglas F.), Canisius, S. (Sander), Schmidt, M. K. (Marjanka K.), Escala-Garcia, M. (Maria), Abraham, J. (Jean), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Ashworth, A. (Alan), Auer, P. L. (Paul L.), Auvinen, P. (Paivi), Beckmann, M. W. (Matthias W.), Beesley, J. (Jonathan), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Blot, W. (William), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Canzian, F. (Federico), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chin, S.-F. (Suet-Feung), Clarke, C. L. (Christine L.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Devilee, P. (Peter), Dunn, J. A. (Janet A.), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Earl, H. M. (Helena M.), Eccles, D. M. (Diana M.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), George, A. (Angela), Giles, G. G. (Graham G.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Grip, M. (Mervi), Guenel, P. (Pascal), Guo, Q. (Qi), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hamann, U. (Ute), Harrington, P. A. (Patricia A.), Hiller, L. (Louise), Hooning, M. J. (Maartje J.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, C.-S. (Chiun-Sheng), Huang, G. (Guanmengqian), Hunter, D. J. (David J.), Jakubowska, A. (Anna), John, E. M. (Esther M.), Kaaks, R. (Rudolf), Kapoor, P. M. (Pooja Middha), Keeman, R. (Renske), Kitahara, C. M. (Cari M.), Koppert, L. B. (Linetta B.), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lejbkowicz, F. (Flavio), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), Maurer, T. (Tabea), Mavroudis, D. (Dimitrios), Meindl, A. (Alfons), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Olshan, A. F. (Andrew F.), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Orr, N. (Nick), Peterlongo, P. (Paolo), Petridis, C. (Christos), Prentice, R. L. (Ross L.), Presneau, N. (Nadege), Punie, K. (Kevin), Ramachandran, D. (Dhanya), Rennert, G. (Gad), Romero, A. (Atocha), Sachchithananthan, M. (Mythily), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schwentner, L. (Lukas), Scott, C. (Christopher), Simard, J. (Jacques), Sohn, C. (Christof), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teixeira, M. R. (Manuel R.), Terry, M. B. (Mary Beth), Thorne, H. (Heather), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Turnbull, C. (Clare), Vachon, C. M. (Celine M.), van der Kolk, L. E. (Lizet E.), Wang, Q. (Qin), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Ziogas, A. (Argyrios), Pharoah, P. D. (Paul D. P.), Hall, P. (Per), Wessels, L. F. (Lodewyk F. A.), Chenevix-Trench, G. (Georgia), Bader, G. D. (Gary D.), Doerk, T. (Thilo), Easton, D. F. (Douglas F.), Canisius, S. (Sander), and Schmidt, M. K. (Marjanka K.)
Abstract: Identifying the underlying genetic drivers of the heritability of breast cancer prognosis remains elusive. We adapt a network-based approach to handle underpowered complex datasets to provide new insights into the potential function of germline variants in breast cancer prognosis. This network-based analysis studies ~7.3 million variants in 84,457 breast cancer patients in relation to breast cancer survival and confirms the results on 12,381 independent patients. Aggregating the prognostic effects of genetic variants across multiple genes, we identify four gene modules associated with survival in estrogen receptor (ER)-negative and one in ER-positive disease. The modules show biological enrichment for cancer-related processes such as G-alpha signaling, circadian clock, angiogenesis, and Rho-GTPases in apoptosis.
Published: 2020

24. Shared genetic risk between eating disorder- and substance-use-related phenotypes:Evidence from genome-wide association studies

Author: Munn-Chernoff, Melissa A., Johnson, Emma C., Chou, Yi Ling, Coleman, Jonathan R.I., Thornton, Laura M., Walters, Raymond K., Yilmaz, Zeynep, Baker, Jessica H., Hübel, Christopher, Gordon, Scott, Medland, Sarah E., Watson, Hunna J., Gaspar, Héléna A., Bryois, Julien, Hinney, Anke, Leppä, Virpi M., Mattheisen, Manuel, Ripke, Stephan, Yao, Shuyang, Giusti-Rodríguez, Paola, Hanscombe, Ken B., Adan, Roger A.H., Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole A., Berrettini, Wade H., Boehm, Ilka, Boni, Claudette, Boraska Perica, Vesna, Buehren, Katharina, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Cone, Roger D., Courtet, Philippe, Crow, Scott, Crowley, James J., Danner, Unna N., Davis, Oliver S.P., de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece E., Dick, Danielle M., Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Duncan, Laramie E., Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred M., Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J., Forzan, Monica, Franklin, Christopher S., Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Gratacos Mayora, Monica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske G., Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Huckins, Laura M., Hudson, James I., Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Karhunen, Leila, Karwautz, Andreas, Kas, Martien J.H., Kennedy, James L., Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl Ri, Klump, Kelly L., Knudsen, Gun Peggy S., La Via, Maria C., Le Hellard, Stephanie, Levitan, Robert D., Li, Dong, Lilenfeld, Lisa, Lin, Bochao Danae, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre J., Maj, Mario, Mannik, Katrin, Marsal, Sara, Marshall, Christian R., Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen, Monteleone, Alessio Maria, Monteleone, Palmiero, Nacmias, Benedetta, Navratilova, Marie, Ntalla, Ioanna, O'Toole, Julie K., Ophoff, Roel A., Padyukov, Leonid, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Pinto, Dalila, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Scherer, Stephen W., Schmidt, Ulrike, Schork, Nicholas J., Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P. Eline, Slof-Op't Landt, Margarita C.T., Slopien, Agnieszka, Sorbi, Sandro, Świątkowska, Beata, Szatkiewicz, Jin P., Tachmazidou, Ioanna, Tenconi, Elena, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie A., van Furth, Eric F., Wagner, Gudrun, Walton, Esther, Widen, Elisabeth, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Bergen, Andrew W., Boden, Joseph M., Brandt, Harry, Crawford, Steven, Halmi, Katherine A., Horwood, L. John, Johnson, Craig, Kaplan, Allan S., Kaye, Walter H., Mitchell, James, Olsen, Catherine M., Pearson, John F., Pedersen, Nancy L., Strober, Michael, Werge, Thomas, Whiteman, David C., Woodside, D. Blake, Grove, Jakob, Henders, Anjali K., Larsen, Janne T., Parker, Richard, Petersen, Liselotte V., Jordan, Jennifer, Kennedy, Martin A., Birgegård, Andreas, Lichtenstein, Paul, Norring, Claes, Landén, Mikael, Mortensen, Preben Bo, Polimanti, Renato, McClintick, Jeanette N., Adkins, Amy E., Aliev, Fazil, Bacanu, Silviu Alin, Batzler, Anthony, Bertelsen, Sarah, Biernacka, Joanna M., Bigdeli, Tim B., Chen, Li Shiun, Clarke, Toni Kim, Degenhardt, Franziska, Docherty, Anna R., Edwards, Alexis C., Foo, Jerome C., Fox, Louis, Frank, Josef, Hack, Laura M., Hartmann, Annette M., Hartz, Sarah M., Heilmann-Heimbach, Stefanie, Hodgkinson, Colin, Hoffmann, Per, Hottenga, Jouke Jan, Konte, Bettina, Lahti, Jari, Lahti-Pulkkinen, Marius, Lai, Dongbing, Ligthart, Lannie, Loukola, Anu, Maher, Brion S., Mbarek, Hamdi, McIntosh, Andrew M., McQueen, Matthew B., Meyers, Jacquelyn L., Milaneschi, Yuri, Palviainen, Teemu, Peterson, Roseann E., Ryu, Euijung, Saccone, Nancy L., Salvatore, Jessica E., Sanchez-Roige, Sandra, Schwandt, Melanie, Sherva, Richard, Streit, Fabian, Strohmaier, Jana, Thomas, Nathaniel, Wang, Jen Chyong, Webb, Bradley T., Wedow, Robbee, Wetherill, Leah, Wills, Amanda G., Zhou, Hang, Boardman, Jason D., Chen, Danfeng, Choi, Doo Sup, Copeland, William E., Culverhouse, Robert C., Dahmen, Norbert, Degenhardt, Louisa, Domingue, Benjamin W., Frye, Mark A., Gäbel, Wolfgang, Hayward, Caroline, Ising, Marcus, Keyes, Margaret, Kiefer, Falk, Koller, Gabriele, Kramer, John, Kuperman, Samuel, Lucae, Susanne, Lynskey, Michael T., Maier, Wolfgang, Mann, Karl, Männistö, Satu, Müller-Myhsok, Bertram, Murray, Alison D., Nurnberger, John I., Preuss, Ulrich, Räikkönen, Katri, Reynolds, Maureen D., Ridinger, Monika, Scherbaum, Norbert, Schuckit, Marc A., Soyka, Michael, Treutlein, Jens, Witt, Stephanie H., Wodarz, Norbert, Zill, Peter, Adkins, Daniel E., Boomsma, Dorret I., Bierut, Laura J., Brown, Sandra A., Bucholz, Kathleen K., Costello, E. Jane, de Wit, Harriet, Diazgranados, Nancy, Eriksson, Johan G., Farrer, Lindsay A., Foroud, Tatiana M., Gillespie, Nathan A., Goate, Alison M., Goldman, David, Grucza, Richard A., Hancock, Dana B., Harris, Kathleen Mullan, Hesselbrock, Victor, Hewitt, John K., Hopfer, Christian J., Iacono, William G., Johnson, Eric O., Karpyak, Victor M., Kendler, Kenneth S., Kranzler, Henry R., Krauter, Kenneth, Lind, Penelope A., McGue, Matt, MacKillop, James, Madden, Pamela A.F., Maes, Hermine H., Magnusson, Patrik K.E., Nelson, Elliot C., Nöthen, Markus M., Palmer, Abraham A., Penninx, Brenda W.J.H., Porjesz, Bernice, Rice, John P., Rietschel, Marcella, Riley, Brien P., Rose, Richard J., Shen, Pei Hong, Silberg, Judy, Stallings, Michael C., Tarter, Ralph E., Vanyukov, Michael M., Vrieze, Scott, Wall, Tamara L., Whitfield, John B., Zhao, Hongyu, Neale, Benjamin M., Wade, Tracey D., Heath, Andrew C., Montgomery, Grant W., Martin, Nicholas G., Sullivan, Patrick F., Kaprio, Jaakko, Breen, Gerome, Gelernter, Joel, Edenberg, Howard J., Bulik, Cynthia M., Agrawal, Arpana, Munn-Chernoff, Melissa A., Johnson, Emma C., Chou, Yi Ling, Coleman, Jonathan R.I., Thornton, Laura M., Walters, Raymond K., Yilmaz, Zeynep, Baker, Jessica H., Hübel, Christopher, Gordon, Scott, Medland, Sarah E., Watson, Hunna J., Gaspar, Héléna A., Bryois, Julien, Hinney, Anke, Leppä, Virpi M., Mattheisen, Manuel, Ripke, Stephan, Yao, Shuyang, Giusti-Rodríguez, Paola, Hanscombe, Ken B., Adan, Roger A.H., Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole A., Berrettini, Wade H., Boehm, Ilka, Boni, Claudette, Boraska Perica, Vesna, Buehren, Katharina, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Cone, Roger D., Courtet, Philippe, Crow, Scott, Crowley, James J., Danner, Unna N., Davis, Oliver S.P., de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece E., Dick, Danielle M., Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Duncan, Laramie E., Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred M., Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J., Forzan, Monica, Franklin, Christopher S., Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Gratacos Mayora, Monica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske G., Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Huckins, Laura M., Hudson, James I., Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Karhunen, Leila, Karwautz, Andreas, Kas, Martien J.H., Kennedy, James L., Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl Ri, Klump, Kelly L., Knudsen, Gun Peggy S., La Via, Maria C., Le Hellard, Stephanie, Levitan, Robert D., Li, Dong, Lilenfeld, Lisa, Lin, Bochao Danae, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre J., Maj, Mario, Mannik, Katrin, Marsal, Sara, Marshall, Christian R., Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen, Monteleone, Alessio Maria, Monteleone, Palmiero, Nacmias, Benedetta, Navratilova, Marie, Ntalla, Ioanna, O'Toole, Julie K., Ophoff, Roel A., Padyukov, Leonid, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Pinto, Dalila, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Scherer, Stephen W., Schmidt, Ulrike, Schork, Nicholas J., Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P. Eline, Slof-Op't Landt, Margarita C.T., Slopien, Agnieszka, Sorbi, Sandro, Świątkowska, Beata, Szatkiewicz, Jin P., Tachmazidou, Ioanna, Tenconi, Elena, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie A., van Furth, Eric F., Wagner, Gudrun, Walton, Esther, Widen, Elisabeth, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Bergen, Andrew W., Boden, Joseph M., Brandt, Harry, Crawford, Steven, Halmi, Katherine A., Horwood, L. John, Johnson, Craig, Kaplan, Allan S., Kaye, Walter H., Mitchell, James, Olsen, Catherine M., Pearson, John F., Pedersen, Nancy L., Strober, Michael, Werge, Thomas, Whiteman, David C., Woodside, D. Blake, Grove, Jakob, Henders, Anjali K., Larsen, Janne T., Parker, Richard, Petersen, Liselotte V., Jordan, Jennifer, Kennedy, Martin A., Birgegård, Andreas, Lichtenstein, Paul, Norring, Claes, Landén, Mikael, Mortensen, Preben Bo, Polimanti, Renato, McClintick, Jeanette N., Adkins, Amy E., Aliev, Fazil, Bacanu, Silviu Alin, Batzler, Anthony, Bertelsen, Sarah, Biernacka, Joanna M., Bigdeli, Tim B., Chen, Li Shiun, Clarke, Toni Kim, Degenhardt, Franziska, Docherty, Anna R., Edwards, Alexis C., Foo, Jerome C., Fox, Louis, Frank, Josef, Hack, Laura M., Hartmann, Annette M., Hartz, Sarah M., Heilmann-Heimbach, Stefanie, Hodgkinson, Colin, Hoffmann, Per, Hottenga, Jouke Jan, Konte, Bettina, Lahti, Jari, Lahti-Pulkkinen, Marius, Lai, Dongbing, Ligthart, Lannie, Loukola, Anu, Maher, Brion S., Mbarek, Hamdi, McIntosh, Andrew M., McQueen, Matthew B., Meyers, Jacquelyn L., Milaneschi, Yuri, Palviainen, Teemu, Peterson, Roseann E., Ryu, Euijung, Saccone, Nancy L., Salvatore, Jessica E., Sanchez-Roige, Sandra, Schwandt, Melanie, Sherva, Richard, Streit, Fabian, Strohmaier, Jana, Thomas, Nathaniel, Wang, Jen Chyong, Webb, Bradley T., Wedow, Robbee, Wetherill, Leah, Wills, Amanda G., Zhou, Hang, Boardman, Jason D., Chen, Danfeng, Choi, Doo Sup, Copeland, William E., Culverhouse, Robert C., Dahmen, Norbert, Degenhardt, Louisa, Domingue, Benjamin W., Frye, Mark A., Gäbel, Wolfgang, Hayward, Caroline, Ising, Marcus, Keyes, Margaret, Kiefer, Falk, Koller, Gabriele, Kramer, John, Kuperman, Samuel, Lucae, Susanne, Lynskey, Michael T., Maier, Wolfgang, Mann, Karl, Männistö, Satu, Müller-Myhsok, Bertram, Murray, Alison D., Nurnberger, John I., Preuss, Ulrich, Räikkönen, Katri, Reynolds, Maureen D., Ridinger, Monika, Scherbaum, Norbert, Schuckit, Marc A., Soyka, Michael, Treutlein, Jens, Witt, Stephanie H., Wodarz, Norbert, Zill, Peter, Adkins, Daniel E., Boomsma, Dorret I., Bierut, Laura J., Brown, Sandra A., Bucholz, Kathleen K., Costello, E. Jane, de Wit, Harriet, Diazgranados, Nancy, Eriksson, Johan G., Farrer, Lindsay A., Foroud, Tatiana M., Gillespie, Nathan A., Goate, Alison M., Goldman, David, Grucza, Richard A., Hancock, Dana B., Harris, Kathleen Mullan, Hesselbrock, Victor, Hewitt, John K., Hopfer, Christian J., Iacono, William G., Johnson, Eric O., Karpyak, Victor M., Kendler, Kenneth S., Kranzler, Henry R., Krauter, Kenneth, Lind, Penelope A., McGue, Matt, MacKillop, James, Madden, Pamela A.F., Maes, Hermine H., Magnusson, Patrik K.E., Nelson, Elliot C., Nöthen, Markus M., Palmer, Abraham A., Penninx, Brenda W.J.H., Porjesz, Bernice, Rice, John P., Rietschel, Marcella, Riley, Brien P., Rose, Richard J., Shen, Pei Hong, Silberg, Judy, Stallings, Michael C., Tarter, Ralph E., Vanyukov, Michael M., Vrieze, Scott, Wall, Tamara L., Whitfield, John B., Zhao, Hongyu, Neale, Benjamin M., Wade, Tracey D., Heath, Andrew C., Montgomery, Grant W., Martin, Nicholas G., Sullivan, Patrick F., Kaprio, Jaakko, Breen, Gerome, Gelernter, Joel, Edenberg, Howard J., Bulik, Cynthia M., and Agrawal, Arpana
Abstract: Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [rg], twin-based = 0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from ~2400 to ~537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder- and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (rg = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN (rg = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating (rg = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating (rgs = −0.19 to −0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co-varying for major depressive disorder loci. The patterns of association between eating disorder- and substance-use-related phenotyp
Published: 2020

25. John L., letters (1959)

Author: L., John and L., John
Abstract: John L., subscription and cancellation (1959)
Published: 2019

26. Alcohol and parenthood: an integrative analysis of the effects of transition to parenthood in three Australasian cohorts

Author: Borschmann, Rohan, Becker, Denise, Spry, Elizabeth, Youssef, George J, Olsson, Craig A, Hutchinson, Delyse M, Silins, Edmund, Boden, Joseph M, Moreno-Betancur, Margarita, Najman, Jake M, Degenhardt, Louisa, Mattick, Richard P, Romaniuk, Helena, Horwood, L John, Patton, George C, Cannabis Cohorts Research Consortium, Borschmann, Rohan, Becker, Denise, Spry, Elizabeth, Youssef, George J, Olsson, Craig A, Hutchinson, Delyse M, Silins, Edmund, Boden, Joseph M, Moreno-Betancur, Margarita, Najman, Jake M, Degenhardt, Louisa, Mattick, Richard P, Romaniuk, Helena, Horwood, L John, Patton, George C, and Cannabis Cohorts Research Consortium
Published: 2019

27. Shared heritability and functional enrichment across six solid cancers

Author: Jiang, X. (Xia), Finucane, H. K. (Hilary K.), Schumacher, F. R. (Fredrick R.), Schmit, S. L. (Stephanie L.), Tyrer, J. P. (Jonathan P.), Han, Y. (Younghun), Michailidou, K. (Kyriaki), Lesseur, C. (Corina), Kuchenbaecker, K. B. (Karoline B.), Dennis, J. (Joe), Conti, D. V. (David V.), Casey, G. (Graham), Gaudet, M. M. (Mia M.), Huyghe, J. R. (Jeroen R.), Albanes, D. (Demetrius), Aldrich, M. C. (Melinda C.), Andrew, A. S. (Angeline S.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antoniou, A. C. (Antonis C.), Antonenkova, N. N. (Natalia N.), Arnold, S. M. (Susanne M.), Aronson, K. J. (Kristan J.), Arun, B. K. (Banu K.), Bandera, E. V. (Elisa V.), Barkardottir, R. B. (Rosa B.), Barnes, D. R. (Daniel R.), Batra, J. (Jyotsna), Beckmann, M. W. (Matthias W.), Benitez, J. (Javier), Benlloch, S. (Sara), Berchuck, A. (Andrew), Berndt, S. I. (Sonja I.), Bickeboeller, H. (Heike), Bien, S. A. (Stephanie A.), Blomqvist, C. (Carl), Boccia, S. (Stefania), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brenton, J. D. (James D.), Brook, M. N. (Mark N.), Brunet, J. (Joan), Brunnstrom, H. (Hans), Buchanan, D. D. (Daniel D.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Cadoni, G. (Gabriella), Caldes, T. (Trinidad), Caligo, M. A. (Maria A.), Campbell, I. (Ian), Campbell, P. T. (Peter T.), Cancel-Tassin, G. (Geraldine), Cannon-Albright, L. (Lisa), Campa, D. (Daniele), Caporaso, N. (Neil), Carvalho, A. L. (Andre L.), Chan, A. T. (Andrew T.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chen, C. (Chu), Christiani, D. C. (David C.), Claes, K. B. (Kathleen B. M.), Claessens, F. (Frank), Clements, J. (Judith), Collee, J. M. (J. Margriet), Correa, M. C. (Marcia Cruz), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cunningham, J. M. (Julie M.), Cybulski, C. (Cezary), Czene, K. (Kamila), Daly, M. B. (Mary B.), defazio, A. (Anna), Devilee, P. (Peter), Diez, O. (Orland), Gago-Dominguez, M. (Manuela), Donovan, J. L. (Jenny L.), Doerk, T. (Thilo), Duell, E. J. (Eric J.), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Edlund, C. K. (Christopher K.), Edwards, D. R. (Digna R. Velez), Ellberg, C. (Carolina), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Ferris, R. L. (Robert L.), Liloglou, T. (Triantafillos), Figueiredo, J. C. (Jane C.), Fletcher, O. (Olivia), Fortner, R. T. (Renee T.), Fostira, F. (Florentia), Franceschi, S. (Silvia), Friedman, E. (Eitan), Gallinger, S. J. (Steven J.), Ganz, P. A. (Patricia A.), Garber, J. (Judy), Garcia-Saenz, J. A. (Jose A.), Gayther, S. A. (Simon A.), Giles, G. G. (Graham G.), Godwin, A. K. (Andrew K.), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Goode, E. L. (Ellen L.), Goodman, M. T. (Marc T.), Goodman, G. (Gary), Grankvist, K. (Kjell), Greene, M. H. (Mark H.), Gronberg, H. (Henrik), Gronwald, J. (Jacek), Guenel, P. (Pascal), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hamdy, F. C. (Freddie C.), Hamilton, R. J. (Robert J.), Hampe, J. (Jochen), Haugen, A. (Aage), Heitz, F. (Florian), Herrero, R. (Rolando), Hillemanns, P. (Peter), Hoffmeister, M. (Michael), Hogdall, E. (Estrid), Hong, Y.-C. (Yun-Chul), Hopper, J. L. (John L.), Houlston, R. (Richard), Hulick, P. J. (Peter J.), Hunter, D. J. (David J.), Huntsman, D. G. (David G.), Idos, G. (Gregory), Imyanitov, E. N. (Evgeny N.), Ingles, S. A. (Sue Ann), Isaacs, C. (Claudine), Jakubowska, A. (Anna), James, P. (Paul), Jenkins, M. A. (Mark A.), Johansson, M. (Mattias), Johansson, M. (Mikael), John, E. M. (Esther M.), Joshi, A. D. (Amit D.), Kaneva, R. (Radka), Karlan, B. Y. (Beth Y.), Kelemen, L. E. (Linda E.), Kuhl, T. (Tabea), Khaw, K.-T. (Kay-Tee), Khusnutdinova, E. (Elza), Kibel, A. S. (Adam S.), Kiemeney, L. A. (Lambertus A.), Kim, J. (Jeri), Kjaer, S. K. (Susanne K.), Knight, J. A. (Julia A.), Kogevinas, M. (Manolis), Kote-Jarai, Z. (Zsofia), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kupryjanczyk, J. (Jolanta), Lacko, M. (Martin), Lam, S. (Stephan), Lambrechts, D. (Diether), Landi, M. T. (Maria Teresa), Lazarus, P. (Philip), Le, N. D. (Nhu D.), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Lenz, H.-J. (Heinz-Josef), Leslie, G. (Goska), Lessel, D. (Davor), Lester, J. (Jenny), Levine, D. A. (Douglas A.), Li, L. (Li), Li, C. I. (Christopher I.), Lindblom, A. (Annika), Lindor, N. M. (Noralane M.), Liu, G. (Geoffrey), Loupakis, F. (Fotios), Lubinski, J. (Jan), Maehle, L. (Lovise), Maier, C. (Christiane), Mannermaa, A. (Arto), Le Marchand, L. (Loic), Margolin, S. (Sara), May, T. (Taymaa), McGuffog, L. (Lesley), Meindl, A. (Alfons), Middha, P. (Pooja), Miller, A. (Austin), Milne, R. L. (Roger L.), MacInnis, R. J. (Robert J.), Modugno, F. (Francesmary), Montagna, M. (Marco), Moreno, V. (Victor), Moysich, K. B. (Kirsten B.), Mucci, L. (Lorelei), Muir, K. (Kenneth), Mulligan, A. M. (Anna Marie), Nathanson, K. L. (Katherine L.), Neal, D. E. (David E.), Ness, A. R. (Andrew R.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Newcomb, P. A. (Polly A.), Newcomb, L. F. (Lisa F.), Nielsen, F. C. (Finn Cilius), Nikitina-Zake, L. (Liene), Nordestgaard, B. G. (Borge G.), Nussbaum, R. L. (Robert L.), Offit, K. (Kenneth), Olah, E. (Edith), Al Olama, A. A. (Ali Amin), Olopade, O. I. (Olufunmilayo I.), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Osorio, A. (Ana), Pandha, H. (Hardev), Park, J. Y. (Jong Y.), Pashayan, N. (Nora), Parsons, M. T. (Michael T.), Pejovic, T. (Tanja), Penney, K. L. (Kathryn L.), Peters, W. H. (Wilbert H. M.), Phelan, C. M. (Catherine M.), Phipps, A. I. (Amanda I.), Plaseska-Karanfilska, D. (Dijana), Pring, M. (Miranda), Prokofyeva, D. (Darya), Radice, P. (Paolo), Stefansson, K. (Kari), Ramus, S. J. (Susan J.), Raskin, L. (Leon), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), van Rensburg, E. J. (Elizabeth J.), Riggan, M. J. (Marjorie J.), Risch, H. A. (Harvey A.), Risch, A. (Angela), Roobol, M. J. (Monique J.), Rosenstein, B. S. (Barry S.), Rossing, M. A. (Mary Anne), De Ruyck, K. (Kim), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schabath, M. B. (Matthew B.), Schleutker, J. (Johanna), Schmidt, M. K. (Marjanka K.), Setiawan, V. W. (V. Wendy), Shen, H. (Hongbing), Siegel, E. M. (Erin M.), Sieh, W. (Weiva), Singer, C. F. (Christian F.), Slattery, M. L. (Martha L.), Sorensen, K. D. (Karina Dalsgaard), Southey, M. C. (Melissa C.), Spurdle, A. B. (Amanda B.), Stanford, J. L. (Janet L.), Stevens, V. L. (Victoria L.), Stintzing, S. (Sebastian), Stone, J. (Jennifer), Sundfeldt, K. (Karin), Sutphen, R. (Rebecca), Swerdlow, A. J. (Anthony J.), Tajara, E. H. (Eloiza H.), Tangen, C. M. (Catherine M.), Tardon, A. (Adonina), Taylor, J. A. (Jack A.), Teare, M. D. (M. Dawn), Teixeira, M. R. (Manuel R.), Terry, M. B. (Mary Beth), Terry, K. L. (Kathryn L.), Thibodeau, S. N. (Stephen N.), Thomassen, M. (Mads), Bjorge, L. (Line), Tischkowitz, M. (Marc), Toland, A. E. (Amanda E.), Torres, D. (Diana), Townsend, P. A. (Paul A.), Travis, R. C. (Ruth C.), Tung, N. (Nadine), Tworoger, S. S. (Shelley S.), Ulrich, C. M. (Cornelia M.), Usmani, N. (Nawaid), Vachon, C. M. (Celine M.), Van Nieuwenhuysen, E. (Els), Vega, A. (Ana), Aguado-Barrera, M. E. (Miguel Elias), Wang, Q. (Qin), Webb, P. M. (Penelope M.), Weinberg, C. R. (Clarice R.), Weinstein, S. (Stephanie), Weissler, M. C. (Mark C.), Weitzel, J. N. (Jeffrey N.), West, C. M. (Catharine M. L.), White, E. (Emily), Whittemore, A. S. (Alice S.), Wichmann, H.-E. (H-Erich), Wiklund, F. (Fredrik), Winqvist, R. (Robert), Wolk, A. (Alicja), Woll, P. (Penella), Woods, M. (Michael), Wu, A. H. (Anna H.), Wu, X. (Xifeng), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Zienolddiny, S. (Shanbeh), Ziogas, A. (Argyrios), Zorn, K. K. (Kristin K.), Lane, J. M. (Jacqueline M.), Saxena, R. (Richa), Thomas, D. (Duncan), Hung, R. J. (Rayjean J.), Diergaarde, B. (Brenda), Mckay, J. (James), Peters, U. (Ulrike), Hsu, L. (Li), Garcia-Closas, M. (Montserrat), Eeles, R. A. (Rosalind A.), Chenevix-Trench, G. (Georgia), Brennan, P. J. (Paul J.), Haiman, C. A. (Christopher A.), Simard, J. (Jacques), Easton, D. F. (Douglas F.), Gruber, S. B. (Stephen B.), Pharoah, P. D. (Paul D. P.), Price, A. L. (Alkes L.), Pasaniuc, B. (Bogdan), Amos, C. I. (Christopher I.), Kraft, P. (Peter), Lindstrom, S. (Sara), Jiang, X. (Xia), Finucane, H. K. (Hilary K.), Schumacher, F. R. (Fredrick R.), Schmit, S. L. (Stephanie L.), Tyrer, J. P. (Jonathan P.), Han, Y. (Younghun), Michailidou, K. (Kyriaki), Lesseur, C. (Corina), Kuchenbaecker, K. B. (Karoline B.), Dennis, J. (Joe), Conti, D. V. (David V.), Casey, G. (Graham), Gaudet, M. M. (Mia M.), Huyghe, J. R. (Jeroen R.), Albanes, D. (Demetrius), Aldrich, M. C. (Melinda C.), Andrew, A. S. (Angeline S.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antoniou, A. C. (Antonis C.), Antonenkova, N. N. (Natalia N.), Arnold, S. M. (Susanne M.), Aronson, K. J. (Kristan J.), Arun, B. K. (Banu K.), Bandera, E. V. (Elisa V.), Barkardottir, R. B. (Rosa B.), Barnes, D. R. (Daniel R.), Batra, J. (Jyotsna), Beckmann, M. W. (Matthias W.), Benitez, J. (Javier), Benlloch, S. (Sara), Berchuck, A. (Andrew), Berndt, S. I. (Sonja I.), Bickeboeller, H. (Heike), Bien, S. A. (Stephanie A.), Blomqvist, C. (Carl), Boccia, S. (Stefania), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brenton, J. D. (James D.), Brook, M. N. (Mark N.), Brunet, J. (Joan), Brunnstrom, H. (Hans), Buchanan, D. D. (Daniel D.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Cadoni, G. (Gabriella), Caldes, T. (Trinidad), Caligo, M. A. (Maria A.), Campbell, I. (Ian), Campbell, P. T. (Peter T.), Cancel-Tassin, G. (Geraldine), Cannon-Albright, L. (Lisa), Campa, D. (Daniele), Caporaso, N. (Neil), Carvalho, A. L. (Andre L.), Chan, A. T. (Andrew T.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chen, C. (Chu), Christiani, D. C. (David C.), Claes, K. B. (Kathleen B. M.), Claessens, F. (Frank), Clements, J. (Judith), Collee, J. M. (J. Margriet), Correa, M. C. (Marcia Cruz), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cunningham, J. M. (Julie M.), Cybulski, C. (Cezary), Czene, K. (Kamila), Daly, M. B. (Mary B.), defazio, A. (Anna), Devilee, P. (Peter), Diez, O. (Orland), Gago-Dominguez, M. (Manuela), Donovan, J. L. (Jenny L.), Doerk, T. (Thilo), Duell, E. J. (Eric J.), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Edlund, C. K. (Christopher K.), Edwards, D. R. (Digna R. Velez), Ellberg, C. (Carolina), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Ferris, R. L. (Robert L.), Liloglou, T. (Triantafillos), Figueiredo, J. C. (Jane C.), Fletcher, O. (Olivia), Fortner, R. T. (Renee T.), Fostira, F. (Florentia), Franceschi, S. (Silvia), Friedman, E. (Eitan), Gallinger, S. J. (Steven J.), Ganz, P. A. (Patricia A.), Garber, J. (Judy), Garcia-Saenz, J. A. (Jose A.), Gayther, S. A. (Simon A.), Giles, G. G. (Graham G.), Godwin, A. K. (Andrew K.), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Goode, E. L. (Ellen L.), Goodman, M. T. (Marc T.), Goodman, G. (Gary), Grankvist, K. (Kjell), Greene, M. H. (Mark H.), Gronberg, H. (Henrik), Gronwald, J. (Jacek), Guenel, P. (Pascal), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hamdy, F. C. (Freddie C.), Hamilton, R. J. (Robert J.), Hampe, J. (Jochen), Haugen, A. (Aage), Heitz, F. (Florian), Herrero, R. (Rolando), Hillemanns, P. (Peter), Hoffmeister, M. (Michael), Hogdall, E. (Estrid), Hong, Y.-C. (Yun-Chul), Hopper, J. L. (John L.), Houlston, R. (Richard), Hulick, P. J. (Peter J.), Hunter, D. J. (David J.), Huntsman, D. G. (David G.), Idos, G. (Gregory), Imyanitov, E. N. (Evgeny N.), Ingles, S. A. (Sue Ann), Isaacs, C. (Claudine), Jakubowska, A. (Anna), James, P. (Paul), Jenkins, M. A. (Mark A.), Johansson, M. (Mattias), Johansson, M. (Mikael), John, E. M. (Esther M.), Joshi, A. D. (Amit D.), Kaneva, R. (Radka), Karlan, B. Y. (Beth Y.), Kelemen, L. E. (Linda E.), Kuhl, T. (Tabea), Khaw, K.-T. (Kay-Tee), Khusnutdinova, E. (Elza), Kibel, A. S. (Adam S.), Kiemeney, L. A. (Lambertus A.), Kim, J. (Jeri), Kjaer, S. K. (Susanne K.), Knight, J. A. (Julia A.), Kogevinas, M. (Manolis), Kote-Jarai, Z. (Zsofia), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kupryjanczyk, J. (Jolanta), Lacko, M. (Martin), Lam, S. (Stephan), Lambrechts, D. (Diether), Landi, M. T. (Maria Teresa), Lazarus, P. (Philip), Le, N. D. (Nhu D.), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Lenz, H.-J. (Heinz-Josef), Leslie, G. (Goska), Lessel, D. (Davor), Lester, J. (Jenny), Levine, D. A. (Douglas A.), Li, L. (Li), Li, C. I. (Christopher I.), Lindblom, A. (Annika), Lindor, N. M. (Noralane M.), Liu, G. (Geoffrey), Loupakis, F. (Fotios), Lubinski, J. (Jan), Maehle, L. (Lovise), Maier, C. (Christiane), Mannermaa, A. (Arto), Le Marchand, L. (Loic), Margolin, S. (Sara), May, T. (Taymaa), McGuffog, L. (Lesley), Meindl, A. (Alfons), Middha, P. (Pooja), Miller, A. (Austin), Milne, R. L. (Roger L.), MacInnis, R. J. (Robert J.), Modugno, F. (Francesmary), Montagna, M. (Marco), Moreno, V. (Victor), Moysich, K. B. (Kirsten B.), Mucci, L. (Lorelei), Muir, K. (Kenneth), Mulligan, A. M. (Anna Marie), Nathanson, K. L. (Katherine L.), Neal, D. E. (David E.), Ness, A. R. (Andrew R.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Newcomb, P. A. (Polly A.), Newcomb, L. F. (Lisa F.), Nielsen, F. C. (Finn Cilius), Nikitina-Zake, L. (Liene), Nordestgaard, B. G. (Borge G.), Nussbaum, R. L. (Robert L.), Offit, K. (Kenneth), Olah, E. (Edith), Al Olama, A. A. (Ali Amin), Olopade, O. I. (Olufunmilayo I.), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Osorio, A. (Ana), Pandha, H. (Hardev), Park, J. Y. (Jong Y.), Pashayan, N. (Nora), Parsons, M. T. (Michael T.), Pejovic, T. (Tanja), Penney, K. L. (Kathryn L.), Peters, W. H. (Wilbert H. M.), Phelan, C. M. (Catherine M.), Phipps, A. I. (Amanda I.), Plaseska-Karanfilska, D. (Dijana), Pring, M. (Miranda), Prokofyeva, D. (Darya), Radice, P. (Paolo), Stefansson, K. (Kari), Ramus, S. J. (Susan J.), Raskin, L. (Leon), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), van Rensburg, E. J. (Elizabeth J.), Riggan, M. J. (Marjorie J.), Risch, H. A. (Harvey A.), Risch, A. (Angela), Roobol, M. J. (Monique J.), Rosenstein, B. S. (Barry S.), Rossing, M. A. (Mary Anne), De Ruyck, K. (Kim), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schabath, M. B. (Matthew B.), Schleutker, J. (Johanna), Schmidt, M. K. (Marjanka K.), Setiawan, V. W. (V. Wendy), Shen, H. (Hongbing), Siegel, E. M. (Erin M.), Sieh, W. (Weiva), Singer, C. F. (Christian F.), Slattery, M. L. (Martha L.), Sorensen, K. D. (Karina Dalsgaard), Southey, M. C. (Melissa C.), Spurdle, A. B. (Amanda B.), Stanford, J. L. (Janet L.), Stevens, V. L. (Victoria L.), Stintzing, S. (Sebastian), Stone, J. (Jennifer), Sundfeldt, K. (Karin), Sutphen, R. (Rebecca), Swerdlow, A. J. (Anthony J.), Tajara, E. H. (Eloiza H.), Tangen, C. M. (Catherine M.), Tardon, A. (Adonina), Taylor, J. A. (Jack A.), Teare, M. D. (M. Dawn), Teixeira, M. R. (Manuel R.), Terry, M. B. (Mary Beth), Terry, K. L. (Kathryn L.), Thibodeau, S. N. (Stephen N.), Thomassen, M. (Mads), Bjorge, L. (Line), Tischkowitz, M. (Marc), Toland, A. E. (Amanda E.), Torres, D. (Diana), Townsend, P. A. (Paul A.), Travis, R. C. (Ruth C.), Tung, N. (Nadine), Tworoger, S. S. (Shelley S.), Ulrich, C. M. (Cornelia M.), Usmani, N. (Nawaid), Vachon, C. M. (Celine M.), Van Nieuwenhuysen, E. (Els), Vega, A. (Ana), Aguado-Barrera, M. E. (Miguel Elias), Wang, Q. (Qin), Webb, P. M. (Penelope M.), Weinberg, C. R. (Clarice R.), Weinstein, S. (Stephanie), Weissler, M. C. (Mark C.), Weitzel, J. N. (Jeffrey N.), West, C. M. (Catharine M. L.), White, E. (Emily), Whittemore, A. S. (Alice S.), Wichmann, H.-E. (H-Erich), Wiklund, F. (Fredrik), Winqvist, R. (Robert), Wolk, A. (Alicja), Woll, P. (Penella), Woods, M. (Michael), Wu, A. H. (Anna H.), Wu, X. (Xifeng), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Zienolddiny, S. (Shanbeh), Ziogas, A. (Argyrios), Zorn, K. K. (Kristin K.), Lane, J. M. (Jacqueline M.), Saxena, R. (Richa), Thomas, D. (Duncan), Hung, R. J. (Rayjean J.), Diergaarde, B. (Brenda), Mckay, J. (James), Peters, U. (Ulrike), Hsu, L. (Li), Garcia-Closas, M. (Montserrat), Eeles, R. A. (Rosalind A.), Chenevix-Trench, G. (Georgia), Brennan, P. J. (Paul J.), Haiman, C. A. (Christopher A.), Simard, J. (Jacques), Easton, D. F. (Douglas F.), Gruber, S. B. (Stephen B.), Pharoah, P. D. (Paul D. P.), Price, A. L. (Alkes L.), Pasaniuc, B. (Bogdan), Amos, C. I. (Christopher I.), Kraft, P. (Peter), and Lindstrom, S. (Sara)
Abstract: Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic correlations between lung and head/neck cancer (rg = 0.57, p = 4.6 × 10−8), breast and ovarian cancer (rg = 0.24, p = 7 × 10−5), breast and lung cancer (rg = 0.18, p =1.5 × 10−6) and breast and colorectal cancer (rg = 0.15, p = 1.1 × 10−4). We also found that multiple cancers are genetically correlated with non-cancer traits including smoking, psychiatric diseases and metabolic characteristics. Functional enrichment analysis revealed a significant excess contribution of conserved and regulatory regions to cancer heritability. Our comprehensive analysis of cross-cancer heritability suggests that solid tumors arising across tissues share in part a common germline genetic basis.
Published: 2019

28. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Author: Ferreira, M. A. (Manuel A.), Gamazon, E. R. (Eric R.), Al-Ejeh, F. (Fares), Aittomaki, K. (Kristiina), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arason, A. (Adalgeir), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Arun, B. K. (Banu K.), Asseryanis, E. (Ella), Azzollini, J. (Jacopo), Balmana, J. (Judith), Barnes, D. R. (Daniel R.), Barrowdale, D. (Daniel), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bialkowska, K. (Katarzyna), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Borg, A. (Ake), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Broeks, A. (Annegien), Burwinkel, B. (Barbara), Caldes, T. (Trinidad), Caligo, M. A. (Maria A.), Campa, D. (Daniele), Campbell, I. (Ian), Canzian, F. (Federico), Carter, J. (Jonathan), Carter, B. D. (Brian D.), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Christiansen, H. (Hans), Chung, W. K. (Wendy K.), Claes, K. B. (Kathleen B. M.), Clarke, C. L. (Christine L.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), de la Hoya, M. (Miguel), Dennis, J. (Joe), Devilee, P. (Peter), Diez, O. (Orland), Doerk, T. (Thilo), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ejlertsen, B. (Bent), Ellberg, C. (Carolina), Engel, C. (Christoph), Eriksson, M. (Mikael), Fasching, P. A. (Peter A.), Fletcher, O. (Olivia), Flyger, H. (Henrik), Friedman, E. (Eitan), Frost, D. (Debra), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Ganz, P. A. (Patricia A.), Gapstur, S. M. (Susan M.), Garber, J. (Judy), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Giles, G. G. (Graham G.), Glendon, G. (Gord), Godwin, A. K. (Andrew K.), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Greene, M. H. (Mark H.), Gronwald, J. (Jacek), Guenel, P. (Pascal), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), He, W. (Wei), Heyworth, J. (Jane), Hogervorst, F. B. (Frans B. L.), Hollestelle, A. (Antoinette), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Hulick, P. J. (Peter J.), Humphreys, K. (Keith), Imyanitov, E. N. (Evgeny N.), Isaacs, C. (Claudine), Jakimovska, M. (Milena), Jakubowska, A. (Anna), James, P. A. (Paul A.), Janavicius, R. (Ramunas), Jankowitz, R. C. (Rachel C.), John, E. M. (Esther M.), Johnson, N. (Nichola), Joseph, V. (Vijai), Karlan, B. Y. (Beth Y.), Khusnutdinova, E. (Elza), Kiiski, J. I. (Johanna, I), Ko, Y.-D. (Yon-Dschun), Jones, M. E. (Michael E.), Konstantopoulou, I. (Irene), Kristensen, V. N. (Vessela N.), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lazaro, C. (Conxi), Leslie, G. (Goska), Lester, J. (Jenny), Lesueur, F. (Fabienne), Lindstrom, S. (Sara), Long, J. (Jirong), Loud, J. T. (Jennifer T.), Lubinski, J. (Jan), Makalic, E. (Enes), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Maurer, T. (Tabea), Mavroudis, D. (Dimitrios), McGuffog, L. (Lesley), Meindl, A. (Alfons), Menon, U. (Usha), Michailidou, K. (Kyriaki), Miller, A. (Austin), Montagna, M. (Marco), Moreno, F. (Fernando), Moserle, L. (Lidia), Mulligan, A. M. (Anna Marie), Nathanson, K. L. (Katherine L.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Nevelsteen, I. (Ines), Nielsen, F. C. (Finn C.), Nikitina-Zake, L. (Liene), Nussbaum, R. L. (Robert L.), Offit, K. (Kenneth), Olah, E. (Edith), Olopade, O. I. (Olufunmilayo, I), Olsson, H. (Hakan), Osorio, A. (Ana), Papp, J. (Janos), Park-Simon, T.-W. (Tjoung-Won), Parsons, M. T. (Michael T.), Pedersen, I. S. (Inge Sokilde), Peixoto, A. (Ana), Peterlongo, P. (Paolo), Pharoah, P. D. (Paul D. P.), Plaseska-Karanfilska, D. (Dijana), Poppe, B. (Bruce), Presneau, N. (Nadege), Radice, P. (Paolo), Rantala, J. (Johanna), Rennert, G. (Gad), Risch, H. A. (Harvey A.), Saloustros, E. (Emmanouil), Sanden, K. (Kristin), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Sharma, P. (Priyanka), Shu, X.-O. (Xiao-Ou), Simard, J. (Jacques), Singer, C. F. (Christian F.), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Spurdle, A. B. (Amanda B.), Stone, J. (Jennifer), Swerdlow, A. J. (Anthony J.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teixeira, M. R. (Manuel R.), Terry, M. B. (Mary Beth), Teule, A. (Alex), Thomassen, M. (Mads), Thoene, K. (Kathrin), Thull, D. L. (Darcy L.), Tischkowitz, M. (Marc), Toland, A. E. (Amanda E.), Torres, D. (Diana), Truong, T. (Therese), Tung, N. (Nadine), Vachon, C. M. (Celine M.), van Asperen, C. J. (Christi J.), van den Ouweland, A. M. (Ans M. W.), van Rensburg, E. J. (Elizabeth J.), Vega, A. (Ana), Viel, A. (Alessandra), Wang, Q. (Qin), Wappenschmidt, B. (Barbara), Weitzel, J. N. (Jeffrey N.), Wendt, C. (Camilla), Winqvist, R. (Robert), Yang, X. R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Ziogas, A. (Argyrios), Kraft, P. (Peter), Antoniou, A. C. (Antonis C.), Zheng, W. (Wei), Easton, D. F. (Douglas F.), Milne, R. L. (Roger L.), Beesley, J. (Jonathan), Chenevix-Trench, G. (Georgia), Arnold, N. (Norbert), Auber, B. (Bernd), Bogdanova-Markov, N. (Nadja), Borde, J. (Julika), Caliebe, A. (Almuth), Ditsch, N. (Nina), Dworniczak, B. (Bernd), Engert, S. (Stefanie), Faust, U. (Ulrike), Gehrig, A. (Andrea), Hahnen, E. (Eric), Hauke, J. (Jan), Hentschel, J. (Julia), Herold, N. (Natalie), Honisch, E. (Ellen), Just, W. (Walter), Kast, K. (Karin), Larsen, M. (Mirjam), Lemke, J. (Johannes), . (), Niederacher, D. (Dieter), Ott, C.-E. (Claus-Eric), Platzer, K. (Konrad), Pohl-Rescigno, E. (Esther), Ramser, J. (Juliane), Rhiem, K. (Kerstin), Steinemann, D. (Doris), Sutter, C. (Christian), Varon-Mateeva, R. (Raymonda), Wang-Gohrke, S. (Shan), Weber, B. H. (Bernhard H. F.), Prieur, F. (Fabienne), Pujol, P. (Pascal), Sagne, C. (Charlotte), Sevenet, N. (Nicolas), Sobol, H. (Hagay), Sokolowska, J. (Johanna), Stoppa-Lyonnet, D. (Dominique), Venat-Bouvet, L. (Laurence), Adlard, J. (Julian), Ahmed, M. (Munaza), Barwell, J. (Julian), Brady, A. (Angela), Brewer, C. (Carole), Cook, J. (Jackie), Davidson, R. (Rosemarie), Donaldson, A. (Alan), Eason, J. (Jacqueline), Eeles, R. (Ros), Evans, D. G. (D. Gareth), Gregory, H. (Helen), Hanson, H. (Helen), Henderson, A. (Alex), Hodgson, S. (Shirley), Izatt, L. (Louise), Kennedy, M. J. (M. John), Lalloo, F. (Fiona), Miller, C. (Clare), Morrison, P. J. (Patrick J.), Ong, K.-r. (Kai-ren), Perkins, J. (Jo), Porteous, M. E. (Mary E.), Rogers, M. T. (Mark T.), Side, L. E. (Lucy E.), Snape, K. (Katie), Walker, L. (Lisa), Harrington, P. A. (Patricia A.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Rookus, M. A. (Matti A.), Seynaeve, C. M. (Caroline M.), van der Baan, F. H. (Frederieke H.), van der Hout, A. H. (Annemieke H.), van der Kolk, L. E. (Lizet E.), van der Luijt, R. B. (Rob B.), van Deurzen, C. H. (Carolien H. M.), van Doorn, H. C. (Helena C.), van Engelen, K. (Klaartje), van Hest, L. (Liselotte), van Os, T. A. (Theo A. M.), Verhoef, S. (Senno), Vogel, M. J. (Maartje J.), Wijnen, J. T. (Juul T.), Miron, A. (Alexander), Kapuscinski, M. (Miroslav), Bane, A. (Anita), Ross, E. (Eric), Buys, S. S. (Saundra S.), Conner, T. A. (Thomas A.), Balleine, R. (Rosemary), Baxter, R. (Robert), Braye, S. (Stephen), Carpenter, J. (Jane), Dahlstrom, J. (Jane), Forbes, J. (John), Lee, S. C. (Soon C.), Marsh, D. (Deborah), Morey, A. (Adrienne), Pathmanathan, N. (Nirmala), Simpson, P. (Peter), Spigelman, A. (Allan), Wilcken, N. (Nicholas), Yip, D. (Desmond), Ferreira, M. A. (Manuel A.), Gamazon, E. R. (Eric R.), Al-Ejeh, F. (Fares), Aittomaki, K. (Kristiina), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arason, A. (Adalgeir), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Arun, B. K. (Banu K.), Asseryanis, E. (Ella), Azzollini, J. (Jacopo), Balmana, J. (Judith), Barnes, D. R. (Daniel R.), Barrowdale, D. (Daniel), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bialkowska, K. (Katarzyna), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Borg, A. (Ake), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Broeks, A. (Annegien), Burwinkel, B. (Barbara), Caldes, T. (Trinidad), Caligo, M. A. (Maria A.), Campa, D. (Daniele), Campbell, I. (Ian), Canzian, F. (Federico), Carter, J. (Jonathan), Carter, B. D. (Brian D.), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Christiansen, H. (Hans), Chung, W. K. (Wendy K.), Claes, K. B. (Kathleen B. M.), Clarke, C. L. (Christine L.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), de la Hoya, M. (Miguel), Dennis, J. (Joe), Devilee, P. (Peter), Diez, O. (Orland), Doerk, T. (Thilo), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ejlertsen, B. (Bent), Ellberg, C. (Carolina), Engel, C. (Christoph), Eriksson, M. (Mikael), Fasching, P. A. (Peter A.), Fletcher, O. (Olivia), Flyger, H. (Henrik), Friedman, E. (Eitan), Frost, D. (Debra), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Ganz, P. A. (Patricia A.), Gapstur, S. M. (Susan M.), Garber, J. (Judy), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Giles, G. G. (Graham G.), Glendon, G. (Gord), Godwin, A. K. (Andrew K.), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Greene, M. H. (Mark H.), Gronwald, J. (Jacek), Guenel, P. (Pascal), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), He, W. (Wei), Heyworth, J. (Jane), Hogervorst, F. B. (Frans B. L.), Hollestelle, A. (Antoinette), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Hulick, P. J. (Peter J.), Humphreys, K. (Keith), Imyanitov, E. N. (Evgeny N.), Isaacs, C. (Claudine), Jakimovska, M. (Milena), Jakubowska, A. (Anna), James, P. A. (Paul A.), Janavicius, R. (Ramunas), Jankowitz, R. C. (Rachel C.), John, E. M. (Esther M.), Johnson, N. (Nichola), Joseph, V. (Vijai), Karlan, B. Y. (Beth Y.), Khusnutdinova, E. (Elza), Kiiski, J. I. (Johanna, I), Ko, Y.-D. (Yon-Dschun), Jones, M. E. (Michael E.), Konstantopoulou, I. (Irene), Kristensen, V. N. (Vessela N.), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lazaro, C. (Conxi), Leslie, G. (Goska), Lester, J. (Jenny), Lesueur, F. (Fabienne), Lindstrom, S. (Sara), Long, J. (Jirong), Loud, J. T. (Jennifer T.), Lubinski, J. (Jan), Makalic, E. (Enes), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Maurer, T. (Tabea), Mavroudis, D. (Dimitrios), McGuffog, L. (Lesley), Meindl, A. (Alfons), Menon, U. (Usha), Michailidou, K. (Kyriaki), Miller, A. (Austin), Montagna, M. (Marco), Moreno, F. (Fernando), Moserle, L. (Lidia), Mulligan, A. M. (Anna Marie), Nathanson, K. L. (Katherine L.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Nevelsteen, I. (Ines), Nielsen, F. C. (Finn C.), Nikitina-Zake, L. (Liene), Nussbaum, R. L. (Robert L.), Offit, K. (Kenneth), Olah, E. (Edith), Olopade, O. I. (Olufunmilayo, I), Olsson, H. (Hakan), Osorio, A. (Ana), Papp, J. (Janos), Park-Simon, T.-W. (Tjoung-Won), Parsons, M. T. (Michael T.), Pedersen, I. S. (Inge Sokilde), Peixoto, A. (Ana), Peterlongo, P. (Paolo), Pharoah, P. D. (Paul D. P.), Plaseska-Karanfilska, D. (Dijana), Poppe, B. (Bruce), Presneau, N. (Nadege), Radice, P. (Paolo), Rantala, J. (Johanna), Rennert, G. (Gad), Risch, H. A. (Harvey A.), Saloustros, E. (Emmanouil), Sanden, K. (Kristin), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Sharma, P. (Priyanka), Shu, X.-O. (Xiao-Ou), Simard, J. (Jacques), Singer, C. F. (Christian F.), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Spurdle, A. B. (Amanda B.), Stone, J. (Jennifer), Swerdlow, A. J. (Anthony J.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teixeira, M. R. (Manuel R.), Terry, M. B. (Mary Beth), Teule, A. (Alex), Thomassen, M. (Mads), Thoene, K. (Kathrin), Thull, D. L. (Darcy L.), Tischkowitz, M. (Marc), Toland, A. E. (Amanda E.), Torres, D. (Diana), Truong, T. (Therese), Tung, N. (Nadine), Vachon, C. M. (Celine M.), van Asperen, C. J. (Christi J.), van den Ouweland, A. M. (Ans M. W.), van Rensburg, E. J. (Elizabeth J.), Vega, A. (Ana), Viel, A. (Alessandra), Wang, Q. (Qin), Wappenschmidt, B. (Barbara), Weitzel, J. N. (Jeffrey N.), Wendt, C. (Camilla), Winqvist, R. (Robert), Yang, X. R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Ziogas, A. (Argyrios), Kraft, P. (Peter), Antoniou, A. C. (Antonis C.), Zheng, W. (Wei), Easton, D. F. (Douglas F.), Milne, R. L. (Roger L.), Beesley, J. (Jonathan), Chenevix-Trench, G. (Georgia), Arnold, N. (Norbert), Auber, B. (Bernd), Bogdanova-Markov, N. (Nadja), Borde, J. (Julika), Caliebe, A. (Almuth), Ditsch, N. (Nina), Dworniczak, B. (Bernd), Engert, S. (Stefanie), Faust, U. (Ulrike), Gehrig, A. (Andrea), Hahnen, E. (Eric), Hauke, J. (Jan), Hentschel, J. (Julia), Herold, N. (Natalie), Honisch, E. (Ellen), Just, W. (Walter), Kast, K. (Karin), Larsen, M. (Mirjam), Lemke, J. (Johannes), . (), Niederacher, D. (Dieter), Ott, C.-E. (Claus-Eric), Platzer, K. (Konrad), Pohl-Rescigno, E. (Esther), Ramser, J. (Juliane), Rhiem, K. (Kerstin), Steinemann, D. (Doris), Sutter, C. (Christian), Varon-Mateeva, R. (Raymonda), Wang-Gohrke, S. (Shan), Weber, B. H. (Bernhard H. F.), Prieur, F. (Fabienne), Pujol, P. (Pascal), Sagne, C. (Charlotte), Sevenet, N. (Nicolas), Sobol, H. (Hagay), Sokolowska, J. (Johanna), Stoppa-Lyonnet, D. (Dominique), Venat-Bouvet, L. (Laurence), Adlard, J. (Julian), Ahmed, M. (Munaza), Barwell, J. (Julian), Brady, A. (Angela), Brewer, C. (Carole), Cook, J. (Jackie), Davidson, R. (Rosemarie), Donaldson, A. (Alan), Eason, J. (Jacqueline), Eeles, R. (Ros), Evans, D. G. (D. Gareth), Gregory, H. (Helen), Hanson, H. (Helen), Henderson, A. (Alex), Hodgson, S. (Shirley), Izatt, L. (Louise), Kennedy, M. J. (M. John), Lalloo, F. (Fiona), Miller, C. (Clare), Morrison, P. J. (Patrick J.), Ong, K.-r. (Kai-ren), Perkins, J. (Jo), Porteous, M. E. (Mary E.), Rogers, M. T. (Mark T.), Side, L. E. (Lucy E.), Snape, K. (Katie), Walker, L. (Lisa), Harrington, P. A. (Patricia A.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Rookus, M. A. (Matti A.), Seynaeve, C. M. (Caroline M.), van der Baan, F. H. (Frederieke H.), van der Hout, A. H. (Annemieke H.), van der Kolk, L. E. (Lizet E.), van der Luijt, R. B. (Rob B.), van Deurzen, C. H. (Carolien H. M.), van Doorn, H. C. (Helena C.), van Engelen, K. (Klaartje), van Hest, L. (Liselotte), van Os, T. A. (Theo A. M.), Verhoef, S. (Senno), Vogel, M. J. (Maartje J.), Wijnen, J. T. (Juul T.), Miron, A. (Alexander), Kapuscinski, M. (Miroslav), Bane, A. (Anita), Ross, E. (Eric), Buys, S. S. (Saundra S.), Conner, T. A. (Thomas A.), Balleine, R. (Rosemary), Baxter, R. (Robert), Braye, S. (Stephen), Carpenter, J. (Jane), Dahlstrom, J. (Jane), Forbes, J. (John), Lee, S. C. (Soon C.), Marsh, D. (Deborah), Morey, A. (Adrienne), Pathmanathan, N. (Nirmala), Simpson, P. (Peter), Spigelman, A. (Allan), Wilcken, N. (Nicholas), and Yip, D. (Desmond)
Abstract: Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.
Published: 2019

29. Polygenic risk scores for prediction of breast cancer and breast cancer subtypes

Author: Mavaddat, N. (Nasim), Michailidou, K. (Kyriaki), Dennis, J. (Joe), Lush, M. (Michael), Fachal, L. (Laura), Lee, A. (Andrew), Tyrer, J. P. (Jonathan P.), Chen, T.-H. (Ting-Huei), Wang, Q. (Qin), Bolla, M. K. (Manjeet K.), Yang, X. (Xin), Adank, M. A. (Muriel A.), Ahearn, T. (Thomas), Aittomaki, K. (Kristiina), Allen, J. (Jamie), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Auer, P. L. (Paul L.), Auvinen, P. (Paivi), Barrdahl, M. (Myrto), Freeman, L. E. (Laura E. Beane), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bernstein, L. (Leslie), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Bremer, M. (Michael), Brenner, H. (Hermann), Brentnall, A. (Adam), Brock, I. W. (Ian W.), Brooks-Wilson, A. (Angela), Brucker, S. Y. (Sara Y.), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Campa, D. (Daniele), Carter, B. D. (Brian D.), Castelao, J. E. (Jose E.), Chanock, S. J. (Stephen J.), Chlebowski, R. (Rowan), Christiansen, H. (Hans), Clarke, C. L. (Christine L.), Collee, J. M. (J. Margriet), Cordina-Duverger, E. (Emilie), Cornelissen, S. (Sten), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Doerk, T. (Thilo), dos-Santos-Silva, I. (Isabel), Dumont, M. (Martine), Durcan, L. (Lorraine), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Engel, C. (Christoph), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Foersti, A. (Asta), Fritschi, L. (Lin), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Georgoulias, V. (Vassilios), Giles, G. G. (Graham G.), Gilyazova, I. R. (Irina R.), Glendon, G. (Gord), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Gronwald, J. (Jacek), Grundy, A. (Anne), Guenel, P. (Pascal), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hamann, U. (Ute), Hankinson, S. E. (Susan E.), Harkness, E. F. (Elaine F.), Hart, S. N. (Steven N.), He, W. (Wei), Hein, A. (Alexander), Heyworth, J. (Jane), Hillemanns, P. (Peter), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, G. (Guanmengqian), Humphreys, K. (Keith), Hunter, D. J. (David J.), Jakimovska, M. (Milena), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Johnson, N. (Nichola), Jones, M. E. (Michael E.), Jukkola-Vuorinen, A. (Arja), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kaczmarek, K. (Katarzyna), Kataja, V. (Vesa), Keeman, R. (Renske), Kerin, M. J. (Michael J.), Khusnutdinova, E. (Elza), Kiiski, J. I. (Johanna, I), Knight, J. A. (Julia A.), Ko, Y.-D. (Yon-Dschun), Kosma, V.-M. (Veli-Matti), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kuehl, T. (Tabea), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Lilyquist, J. (Jenna), Lindblom, A. (Annika), Lindstrom, S. (Sara), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loibl, S. (Sibylle), Long, J. (Jirong), Lubinski, J. (Jan), Lux, M. P. (Michael P.), MacInnis, R. J. (Robert J.), Maishman, T. (Tom), Makalic, E. (Enes), Kostovska, I. M. (Ivana Maleva), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martens, J. W. (John W. M.), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), McLean, C. (Catriona), Meindl, A. (Alfons), Menon, U. (Usha), Middha, P. (Pooja), Miller, N. (Nicola), Moreno, F. (Fernando), Mulligan, A. M. (Anna Marie), Mulot, C. (Claire), Munoz-Garzon, V. M. (Victor M.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Newman, W. G. (William G.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Norman, A. (Aaron), Offit, K. (Kenneth), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Orr, N. (Nick), Pankratz, V. S. (V. Shane), Park-Simon, T.-W. (Tjoung-Won), Perez, J. I. (Jose I. A.), Perez-Barrios, C. (Clara), Peterlongo, P. (Paolo), Peto, J. (Julian), Pinchev, M. (Mila), Plaseska-Karanfilska, D. (Dijana), Polley, E. C. (Eric C.), Prentice, R. (Ross), Presneau, N. (Nadege), Prokofyeva, D. (Darya), Purrington, K. (Kristen), Pylkäs, K. (Katri), Rack, B. (Brigitte), Radice, P. (Paolo), Rau-Murthy, R. (Rohini), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Robson, M. (Mark), Romero, A. (Atocha), Ruddy, K. J. (Kathryn J.), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, D. F. (Daniel F.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Schumacher, F. (Fredrick), Schuermann, P. (Peter), Schwentner, L. (Lukas), Scott, C. (Christopher), Scott, R. J. (Rodney J.), Seynaeve, C. (Caroline), Shah, M. (Mitul), Sherman, M. E. (Mark E.), Shrubsole, M. J. (Martha J.), Shu, X.-O. (Xiao-Ou), Slager, S. (Susan), Smeets, A. (Ann), Sohn, C. (Christof), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stegmaier, C. (Christa), Stone, J. (Jennifer), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Terry, M. B. (Mary Beth), Thoene, K. (Kathrin), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Truong, T. (Therese), Tzardi, M. (Maria), Ulmer, H.-U. (Hans-Ulrich), Untch, M. (Michael), Vachon, C. M. (Celine M.), van Veen, E. M. (Elke M.), Vijai, J. (Joseph), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Whittemore, A. S. (Alice S.), Wildiers, H. (Hans), Willett, W. (Walter), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Zhang, Y. (Yan), Zheng, W. (Wei), Ziogas, A. (Argyrios), Clarke, C. (Christine), Balleine, R. (Rosemary), Baxter, R. (Robert), Braye, S. (Stephen), Carpenter, J. (Jane), Dahlstrom, J. (Jane), Forbes, J. (John), Lee, C. S. (C. Soon), Marsh, D. (Deborah), Morey, A. (Adrienne), Pathmanathan, N. (Nirmala), Scott, R. (Rodney), Simpson, P. (Peter), Spigelman, A. (Allan), Wilcken, N. (Nicholas), Yip, D. (Desmond), Zeps, N. (Nikolajs), Sexton, A. (Adrienne), Dobrovic, A. (Alex), Christian, A. (Alice), Trainer, A. (Alison), Fellows, A. (Andrew), Shelling, A. (Andrew), De Fazio, A. (Anna), Blackburn, A. (Anneke), Crook, A. (Ashley), Meiser, B. (Bettina), Patterson, B. (Briony), Clarke, C. (Christobel), Saunders, C. (Christobel), Hunt, C. (Clare), Scott, C. (Clare), Amor, D. (David), Ortega, D. G. (David Gallego), Marsh, D. (Deb), Edkins, E. (Edward), Salisbury, E. (Elizabeth), Haan, E. (Eric), Macrea, F. (Finlay), Farshid, G. (Gelareh), Lindeman, G. (Geoff), Trench, G. (Georgia), Mann, G. (Graham), Giles, G. (Graham), Gill, G. (Grantley), Thorne, H. (Heather), Campbell, I. (Ian), Hickie, I. (Ian), Caldon, L. (Liz), Winship, I. (Ingrid), Cui, J. (James), Flanagan, J. (James), Kollias, J. (James), Visvader, J. (Jane), Taylor, J. (Jessica), Burke, J. (Jo), Saunus, J. (Jodi), Forbs, J. (John), Hopper, J. (John), Beesley, J. (Jonathan), Kirk, J. (Judy), French, J. (Juliet), Tucker, K. (Kathy), Wu, K. (Kathy), Phillips, K. (Kelly), Forrest, L. (Laura), Lipton, L. (Lara), Andrews, L. (Leslie), Lobb, L. (Lizz), Walker, L. (Logan), Kentwell, M. (Maira), Spurdle, M. (Mandy), Cummings, M. (Margaret), Gleeson, M. (Margaret), Harris, M. (Marion), Jenkins, M. (Mark), Young, M. A. (Mary Anne), Delatycki, M. (Martin), Wallis, M. (Mathew), Burgess, M. (Matthew), Brown, M. (Melissa), Southey, M. (Melissa), Bogwitz, M. (Michael), Field, M. (Michael), Friedlander, M. (Michael), Gattas, M. (Michael), Saleh, M. (Mona), Aghmesheh, M. (Morteza), Hayward, N. (Nick), Pachter, N. (Nick), Cohen, P. (Paul), Duijf, P. (Pascal), James, P. (Paul), Simpson, P. (Pete), Fong, P. (Peter), Butow, P. (Phyllis), Williams, R. (Rachael), Kefford, R. (Rick), Simard, J. (Jacques), Balleine, R.-M. (Rose-Mary), Dawson, S.-J. (Sarah-Jane), Lok, S. (Sheau), O'connell, S. (Shona), Greening, S. (Sian), Nightingale, S. (Sophie), Edwards, S. (Stacey), Fox, S. (Stephen), McLachlan, S.-A. (Sue-Anne), Lakhani, S. (Sunil), Dudding, T. (Tracy), Antill, Y. (Yoland), Sahlberg, K. K. (Kristine K.), Ottestad, L. (Lars), Karesen, R. (Rolf), Schlichting, E. (Ellen), Holmen, M. M. (Marit Muri), Sauer, T. (Toril), Haakensen, V. (Vilde), Engebraten, O. (Olav), Naume, B. (Bjorn), Fossa, A. (Alexander), Kiserud, C. E. (Cecile E.), Reinertsen, K. V. (Kristin, V), Helland, A. (Aslaug), Riis, M. (Margit), Geisler, J. (Juergen), Dunning, A. M. (Alison M.), Thompson, D. J. (Deborah J.), Chenevix-Trench, G. (Georgia), Chang-Claude, J. (Jenny), Schmidt, M. K. (Marjanka K.), Hall, P. (Per), Milne, R. L. (Roger L.), Pharoah, P. D. (Paul D. P.), Antoniou, A. C. (Antonis C.), Chatterjee, N. (Nilanjan), Kraft, P. (Peter), Garcia-Closas, M. (Montserrat), Easton, D. F. (Douglas F.), Mavaddat, N. (Nasim), Michailidou, K. (Kyriaki), Dennis, J. (Joe), Lush, M. (Michael), Fachal, L. (Laura), Lee, A. (Andrew), Tyrer, J. P. (Jonathan P.), Chen, T.-H. (Ting-Huei), Wang, Q. (Qin), Bolla, M. K. (Manjeet K.), Yang, X. (Xin), Adank, M. A. (Muriel A.), Ahearn, T. (Thomas), Aittomaki, K. (Kristiina), Allen, J. (Jamie), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Auer, P. L. (Paul L.), Auvinen, P. (Paivi), Barrdahl, M. (Myrto), Freeman, L. E. (Laura E. Beane), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bernstein, L. (Leslie), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Bremer, M. (Michael), Brenner, H. (Hermann), Brentnall, A. (Adam), Brock, I. W. (Ian W.), Brooks-Wilson, A. (Angela), Brucker, S. Y. (Sara Y.), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Campa, D. (Daniele), Carter, B. D. (Brian D.), Castelao, J. E. (Jose E.), Chanock, S. J. (Stephen J.), Chlebowski, R. (Rowan), Christiansen, H. (Hans), Clarke, C. L. (Christine L.), Collee, J. M. (J. Margriet), Cordina-Duverger, E. (Emilie), Cornelissen, S. (Sten), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Doerk, T. (Thilo), dos-Santos-Silva, I. (Isabel), Dumont, M. (Martine), Durcan, L. (Lorraine), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Engel, C. (Christoph), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Foersti, A. (Asta), Fritschi, L. (Lin), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Georgoulias, V. (Vassilios), Giles, G. G. (Graham G.), Gilyazova, I. R. (Irina R.), Glendon, G. (Gord), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Gronwald, J. (Jacek), Grundy, A. (Anne), Guenel, P. (Pascal), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hamann, U. (Ute), Hankinson, S. E. (Susan E.), Harkness, E. F. (Elaine F.), Hart, S. N. (Steven N.), He, W. (Wei), Hein, A. (Alexander), Heyworth, J. (Jane), Hillemanns, P. (Peter), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, G. (Guanmengqian), Humphreys, K. (Keith), Hunter, D. J. (David J.), Jakimovska, M. (Milena), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Johnson, N. (Nichola), Jones, M. E. (Michael E.), Jukkola-Vuorinen, A. (Arja), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kaczmarek, K. (Katarzyna), Kataja, V. (Vesa), Keeman, R. (Renske), Kerin, M. J. (Michael J.), Khusnutdinova, E. (Elza), Kiiski, J. I. (Johanna, I), Knight, J. A. (Julia A.), Ko, Y.-D. (Yon-Dschun), Kosma, V.-M. (Veli-Matti), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kuehl, T. (Tabea), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Lilyquist, J. (Jenna), Lindblom, A. (Annika), Lindstrom, S. (Sara), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loibl, S. (Sibylle), Long, J. (Jirong), Lubinski, J. (Jan), Lux, M. P. (Michael P.), MacInnis, R. J. (Robert J.), Maishman, T. (Tom), Makalic, E. (Enes), Kostovska, I. M. (Ivana Maleva), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martens, J. W. (John W. M.), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), McLean, C. (Catriona), Meindl, A. (Alfons), Menon, U. (Usha), Middha, P. (Pooja), Miller, N. (Nicola), Moreno, F. (Fernando), Mulligan, A. M. (Anna Marie), Mulot, C. (Claire), Munoz-Garzon, V. M. (Victor M.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Newman, W. G. (William G.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Norman, A. (Aaron), Offit, K. (Kenneth), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Orr, N. (Nick), Pankratz, V. S. (V. Shane), Park-Simon, T.-W. (Tjoung-Won), Perez, J. I. (Jose I. A.), Perez-Barrios, C. (Clara), Peterlongo, P. (Paolo), Peto, J. (Julian), Pinchev, M. (Mila), Plaseska-Karanfilska, D. (Dijana), Polley, E. C. (Eric C.), Prentice, R. (Ross), Presneau, N. (Nadege), Prokofyeva, D. (Darya), Purrington, K. (Kristen), Pylkäs, K. (Katri), Rack, B. (Brigitte), Radice, P. (Paolo), Rau-Murthy, R. (Rohini), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Robson, M. (Mark), Romero, A. (Atocha), Ruddy, K. J. (Kathryn J.), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, D. F. (Daniel F.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Schumacher, F. (Fredrick), Schuermann, P. (Peter), Schwentner, L. (Lukas), Scott, C. (Christopher), Scott, R. J. (Rodney J.), Seynaeve, C. (Caroline), Shah, M. (Mitul), Sherman, M. E. (Mark E.), Shrubsole, M. J. (Martha J.), Shu, X.-O. (Xiao-Ou), Slager, S. (Susan), Smeets, A. (Ann), Sohn, C. (Christof), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stegmaier, C. (Christa), Stone, J. (Jennifer), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Terry, M. B. (Mary Beth), Thoene, K. (Kathrin), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Truong, T. (Therese), Tzardi, M. (Maria), Ulmer, H.-U. (Hans-Ulrich), Untch, M. (Michael), Vachon, C. M. (Celine M.), van Veen, E. M. (Elke M.), Vijai, J. (Joseph), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Whittemore, A. S. (Alice S.), Wildiers, H. (Hans), Willett, W. (Walter), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Zhang, Y. (Yan), Zheng, W. (Wei), Ziogas, A. (Argyrios), Clarke, C. (Christine), Balleine, R. (Rosemary), Baxter, R. (Robert), Braye, S. (Stephen), Carpenter, J. (Jane), Dahlstrom, J. (Jane), Forbes, J. (John), Lee, C. S. (C. Soon), Marsh, D. (Deborah), Morey, A. (Adrienne), Pathmanathan, N. (Nirmala), Scott, R. (Rodney), Simpson, P. (Peter), Spigelman, A. (Allan), Wilcken, N. (Nicholas), Yip, D. (Desmond), Zeps, N. (Nikolajs), Sexton, A. (Adrienne), Dobrovic, A. (Alex), Christian, A. (Alice), Trainer, A. (Alison), Fellows, A. (Andrew), Shelling, A. (Andrew), De Fazio, A. (Anna), Blackburn, A. (Anneke), Crook, A. (Ashley), Meiser, B. (Bettina), Patterson, B. (Briony), Clarke, C. (Christobel), Saunders, C. (Christobel), Hunt, C. (Clare), Scott, C. (Clare), Amor, D. (David), Ortega, D. G. (David Gallego), Marsh, D. (Deb), Edkins, E. (Edward), Salisbury, E. (Elizabeth), Haan, E. (Eric), Macrea, F. (Finlay), Farshid, G. (Gelareh), Lindeman, G. (Geoff), Trench, G. (Georgia), Mann, G. (Graham), Giles, G. (Graham), Gill, G. (Grantley), Thorne, H. (Heather), Campbell, I. (Ian), Hickie, I. (Ian), Caldon, L. (Liz), Winship, I. (Ingrid), Cui, J. (James), Flanagan, J. (James), Kollias, J. (James), Visvader, J. (Jane), Taylor, J. (Jessica), Burke, J. (Jo), Saunus, J. (Jodi), Forbs, J. (John), Hopper, J. (John), Beesley, J. (Jonathan), Kirk, J. (Judy), French, J. (Juliet), Tucker, K. (Kathy), Wu, K. (Kathy), Phillips, K. (Kelly), Forrest, L. (Laura), Lipton, L. (Lara), Andrews, L. (Leslie), Lobb, L. (Lizz), Walker, L. (Logan), Kentwell, M. (Maira), Spurdle, M. (Mandy), Cummings, M. (Margaret), Gleeson, M. (Margaret), Harris, M. (Marion), Jenkins, M. (Mark), Young, M. A. (Mary Anne), Delatycki, M. (Martin), Wallis, M. (Mathew), Burgess, M. (Matthew), Brown, M. (Melissa), Southey, M. (Melissa), Bogwitz, M. (Michael), Field, M. (Michael), Friedlander, M. (Michael), Gattas, M. (Michael), Saleh, M. (Mona), Aghmesheh, M. (Morteza), Hayward, N. (Nick), Pachter, N. (Nick), Cohen, P. (Paul), Duijf, P. (Pascal), James, P. (Paul), Simpson, P. (Pete), Fong, P. (Peter), Butow, P. (Phyllis), Williams, R. (Rachael), Kefford, R. (Rick), Simard, J. (Jacques), Balleine, R.-M. (Rose-Mary), Dawson, S.-J. (Sarah-Jane), Lok, S. (Sheau), O'connell, S. (Shona), Greening, S. (Sian), Nightingale, S. (Sophie), Edwards, S. (Stacey), Fox, S. (Stephen), McLachlan, S.-A. (Sue-Anne), Lakhani, S. (Sunil), Dudding, T. (Tracy), Antill, Y. (Yoland), Sahlberg, K. K. (Kristine K.), Ottestad, L. (Lars), Karesen, R. (Rolf), Schlichting, E. (Ellen), Holmen, M. M. (Marit Muri), Sauer, T. (Toril), Haakensen, V. (Vilde), Engebraten, O. (Olav), Naume, B. (Bjorn), Fossa, A. (Alexander), Kiserud, C. E. (Cecile E.), Reinertsen, K. V. (Kristin, V), Helland, A. (Aslaug), Riis, M. (Margit), Geisler, J. (Juergen), Dunning, A. M. (Alison M.), Thompson, D. J. (Deborah J.), Chenevix-Trench, G. (Georgia), Chang-Claude, J. (Jenny), Schmidt, M. K. (Marjanka K.), Hall, P. (Per), Milne, R. L. (Roger L.), Pharoah, P. D. (Paul D. P.), Antoniou, A. C. (Antonis C.), Chatterjee, N. (Nilanjan), Kraft, P. (Peter), Garcia-Closas, M. (Montserrat), and Easton, D. F. (Douglas F.)
Abstract: Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training and validation sets. Samples were genotyped using genome-wide arrays, and single-nucleotide polymorphisms (SNPs) were selected by stepwise regression or lasso penalized regression. The best performing PRSs were validated in an independent test set comprising 11,428 case subjects and 18,323 control subjects from 10 prospective studies and 190,040 women from UK Biobank (3,215 incident breast cancers). For the best PRSs (313 SNPs), the odds ratio for overall disease per 1 standard deviation in ten prospective studies was 1.61 (95%CI: 1.57–1.65) with area under receiver-operator curve (AUC) = 0.630 (95%CI: 0.628–0.651). The lifetime risk of overall breast cancer in the top centile of the PRSs was 32.6%. Compared with women in the middle quintile, those in the highest 1% of risk had 4.37- and 2.78-fold risks, and those in the lowest 1% of risk had 0.16- and 0.27-fold risks, of developing ER-positive and ER-negative disease, respectively. Goodness-of-fit tests indicated that this PRS was well calibrated and predicts disease risk accurately in the tails of the distribution. This PRS is a powerful and reliable predictor of breast cancer risk that may improve breast cancer prevention programs.
Published: 2019

30. Genome-wide association study of germline variants and breast cancer-specific mortality

Author: Escala-Garcia, M. (Maria), Guo, Q. (Qi), Doerk, T. (Thilo), Canisius, S. (Sander), Keeman, R. (Renske), Dennis, J. (Joe), Beesley, J. (Jonathan), Lecarpentier, J. (Julie), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Abraham, J. (Jean), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Auer, P. L. (Paul L.), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bernstein, L. (Leslie), Blomqvist, C. (Carl), Boeckx, B. (Bram), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brentnall, A. (Adam), Brinton, L. (Louise), Broberg, P. (Per), Brock, I. W. (Ian W.), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Caldes, T. (Trinidad), Campa, D. (Daniele), Canzian, F. (Federico), Carracedo, A. (Angel), Carter, B. D. (Brian D.), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Cheng, T. D. (Ting-Yuan David), Chin, S.-F. (Suet-Feung), Clarke, C. L. (Christine L.), Cordina-Duverger, E. (Emilie), Couch, F. J. (Fergus J.), Cox, D. G. (David G.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Dunn, J. A. (Janet A.), Dunning, A. M. (Alison M.), Durcan, L. (Lorraine), Dwek, M. (Miriam), Earl, H. M. (Helena M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Engel, C. (Christoph), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Figueroa, J. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Galle, E. (Eva), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), George, A. (Angela), Georgoulias, V. (Vassilios), Giles, G. G. (Graham G.), Glendon, G. (Gord), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Guenel, P. (Pascal), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hankinson, S. (Susan), Harkness, E. F. (Elaine F.), Harrington, P. A. (Patricia A.), Hart, S. N. (Steven N.), Hartikainen, J. M. (Jaana M.), Hein, A. (Alexander), Hillemanns, P. (Peter), Hiller, L. (Louise), Holleczek, B. (Bernd), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, G. (Guanmengqian), Humphreys, K. (Keith), Hunter, D. J. (David J.), Janni, W. (Wolfgang), John, E. M. (Esther M.), Jones, M. E. (Michael E.), Jukkola-Vuorinen, A. (Arja), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kabisch, M. (Maria), Kaczmarek, K. (Katarzyna), Kerin, M. J. (Michael J.), Khan, S. (Sofia), Khusnutdinova, E. (Elza), Kiiski, J. I. (Johanna, I), Kitahara, C. M. (Cari M.), Knight, J. A. (Julia A.), Ko, Y.-D. (Yon-Dschun), Koppert, L. B. (Linetta B.), Kosma, V.-M. (Veli-Matti), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kuehl, T. (Tabea), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Li, L. (Lian), Lindblom, A. (Annika), Lindstrom, S. (Sara), Linet, M. (Martha), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loibl, S. (Sibylle), Lubinski, J. (Jan), Lux, M. P. (Michael P.), MacInnis, R. J. (Robert J.), Maierthaler, M. (Melanie), Maishman, T. (Tom), Makalic, E. (Enes), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), McLean, C. (Catriona), Meindl, A. (Alfons), Middha, P. (Pooja), Miller, N. (Nicola), Milne, R. L. (Roger L.), Moreno, F. (Fernando), Mulligan, A. M. (Anna Marie), Mulot, C. (Claire), Nassir, R. (Rami), Neuhausen, S. L. (Susan L.), Newman, W. T. (William T.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Norman, A. (Aaron), Olsson, H. (Hakan), Orr, N. (Nick), Pankratz, V. S. (V. Shane), Park-Simon, T.-W. (Tjoung-Won), Perez, J. I. (Jose I. A.), Perez-Barrios, C. (Clara), Peterlongo, P. (Paolo), Petridis, C. (Christos), Pinchev, M. (Mila), Prajzendanc, K. (Karoliona), Prentice, R. (Ross), Presneau, N. (Nadege), Prokofieva, D. (Darya), Pylkas, K. (Katri), Rack, B. (Brigitte), Radice, P. (Paolo), Ramachandran, D. (Dhanya), Rennert, G. (Gadi), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Roylance, R. (Rebecca), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmidt, D. F. (Daniel F.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Schumacher, F. (Fredrick), Schwentner, L. (Lukas), Scott, R. J. (Rodney J.), Scott, C. (Christopher), Seynaeve, C. (Caroline), Shah, M. (Mitul), Simard, J. (Jacques), Smeets, A. (Ann), Sohn, C. (Christof), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Talhouk, A. (Aline), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teixeira, M. R. (Manuel R.), Tengstrom, M. (Maria), Terry, M. B. (Mary Beth), Thoene, K. (Kathrin), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Torres, D. (Diana), Truong, T. (Therese), Turman, C. (Constance), Turnbull, C. (Clare), Ulmer, H.-U. (Hans-Ulrich), Untch, M. (Michael), Vachon, C. (Celine), van Asperen, C. J. (Christi J.), van den Ouweland, A. M. (Ans M. W.), van Veen, E. M. (Elke M.), Wendt, C. (Camilla), Whittemore, A. S. (Alice S.), Willett, W. (Walter), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Zhang, Y. (Yan), Easton, D. F. (Douglas F.), Fasching, P. A. (Peter A.), Nevanlinna, H. (Heli), Eccles, D. M. (Diana M.), Pharoah, P. D. (Paul D. P.), Schmidt, M. K. (Marjanka K.), Escala-Garcia, M. (Maria), Guo, Q. (Qi), Doerk, T. (Thilo), Canisius, S. (Sander), Keeman, R. (Renske), Dennis, J. (Joe), Beesley, J. (Jonathan), Lecarpentier, J. (Julie), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Abraham, J. (Jean), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Auer, P. L. (Paul L.), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bernstein, L. (Leslie), Blomqvist, C. (Carl), Boeckx, B. (Bram), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brentnall, A. (Adam), Brinton, L. (Louise), Broberg, P. (Per), Brock, I. W. (Ian W.), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Caldes, T. (Trinidad), Campa, D. (Daniele), Canzian, F. (Federico), Carracedo, A. (Angel), Carter, B. D. (Brian D.), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Cheng, T. D. (Ting-Yuan David), Chin, S.-F. (Suet-Feung), Clarke, C. L. (Christine L.), Cordina-Duverger, E. (Emilie), Couch, F. J. (Fergus J.), Cox, D. G. (David G.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Dunn, J. A. (Janet A.), Dunning, A. M. (Alison M.), Durcan, L. (Lorraine), Dwek, M. (Miriam), Earl, H. M. (Helena M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Engel, C. (Christoph), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Figueroa, J. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Galle, E. (Eva), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), George, A. (Angela), Georgoulias, V. (Vassilios), Giles, G. G. (Graham G.), Glendon, G. (Gord), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Guenel, P. (Pascal), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hankinson, S. (Susan), Harkness, E. F. (Elaine F.), Harrington, P. A. (Patricia A.), Hart, S. N. (Steven N.), Hartikainen, J. M. (Jaana M.), Hein, A. (Alexander), Hillemanns, P. (Peter), Hiller, L. (Louise), Holleczek, B. (Bernd), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, G. (Guanmengqian), Humphreys, K. (Keith), Hunter, D. J. (David J.), Janni, W. (Wolfgang), John, E. M. (Esther M.), Jones, M. E. (Michael E.), Jukkola-Vuorinen, A. (Arja), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kabisch, M. (Maria), Kaczmarek, K. (Katarzyna), Kerin, M. J. (Michael J.), Khan, S. (Sofia), Khusnutdinova, E. (Elza), Kiiski, J. I. (Johanna, I), Kitahara, C. M. (Cari M.), Knight, J. A. (Julia A.), Ko, Y.-D. (Yon-Dschun), Koppert, L. B. (Linetta B.), Kosma, V.-M. (Veli-Matti), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kuehl, T. (Tabea), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Li, L. (Lian), Lindblom, A. (Annika), Lindstrom, S. (Sara), Linet, M. (Martha), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loibl, S. (Sibylle), Lubinski, J. (Jan), Lux, M. P. (Michael P.), MacInnis, R. J. (Robert J.), Maierthaler, M. (Melanie), Maishman, T. (Tom), Makalic, E. (Enes), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), McLean, C. (Catriona), Meindl, A. (Alfons), Middha, P. (Pooja), Miller, N. (Nicola), Milne, R. L. (Roger L.), Moreno, F. (Fernando), Mulligan, A. M. (Anna Marie), Mulot, C. (Claire), Nassir, R. (Rami), Neuhausen, S. L. (Susan L.), Newman, W. T. (William T.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Norman, A. (Aaron), Olsson, H. (Hakan), Orr, N. (Nick), Pankratz, V. S. (V. Shane), Park-Simon, T.-W. (Tjoung-Won), Perez, J. I. (Jose I. A.), Perez-Barrios, C. (Clara), Peterlongo, P. (Paolo), Petridis, C. (Christos), Pinchev, M. (Mila), Prajzendanc, K. (Karoliona), Prentice, R. (Ross), Presneau, N. (Nadege), Prokofieva, D. (Darya), Pylkas, K. (Katri), Rack, B. (Brigitte), Radice, P. (Paolo), Ramachandran, D. (Dhanya), Rennert, G. (Gadi), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Roylance, R. (Rebecca), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmidt, D. F. (Daniel F.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Schumacher, F. (Fredrick), Schwentner, L. (Lukas), Scott, R. J. (Rodney J.), Scott, C. (Christopher), Seynaeve, C. (Caroline), Shah, M. (Mitul), Simard, J. (Jacques), Smeets, A. (Ann), Sohn, C. (Christof), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Talhouk, A. (Aline), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teixeira, M. R. (Manuel R.), Tengstrom, M. (Maria), Terry, M. B. (Mary Beth), Thoene, K. (Kathrin), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Torres, D. (Diana), Truong, T. (Therese), Turman, C. (Constance), Turnbull, C. (Clare), Ulmer, H.-U. (Hans-Ulrich), Untch, M. (Michael), Vachon, C. (Celine), van Asperen, C. J. (Christi J.), van den Ouweland, A. M. (Ans M. W.), van Veen, E. M. (Elke M.), Wendt, C. (Camilla), Whittemore, A. S. (Alice S.), Willett, W. (Walter), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Zhang, Y. (Yan), Easton, D. F. (Douglas F.), Fasching, P. A. (Peter A.), Nevanlinna, H. (Heli), Eccles, D. M. (Diana M.), Pharoah, P. D. (Paul D. P.), and Schmidt, M. K. (Marjanka K.)
Abstract: Background: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. Methods: Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP). Results: We did not find any variant associated with breast cancer-specific mortality at P < 5 × 10−8. For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 × 10−7, hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84–0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 × 10−7, HR = 1.27, 95% CI = 1.16–1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster. Conclusions: We uncovered germline variants on chromosome 7 at BFDP < 15% close to genes for which there is biological evidence related to breast cancer outcome. However, the paucity of variants associated with mortality at genome-wide significance underpins the challenge in providing genetic-based individualised prognostic information for breast cancer patients.
Published: 2019

31. A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

Author: Wu, L. (Lang), Shi, W. (Wei), Long, J. (Jirong), Guo, X. (Xingyi), Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Bolla, M. K. (Manjeet K.), Shu, X.-O. (Xiao-Ou), Lu, Y. (Yingchang), Cai, Q. (Qiuyin), Al-Ejeh, F. (Fares), Rozali, E. (Esdy), Wang, Q. (Qin), Dennis, J. (Joe), Li, B. (Bingshan), Zeng, C. (Chenjie), Feng, H. (Helian), Gusev, A. (Alexander), Barfield, R. T. (Richard T.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Auer, P. L. (Paul L.), Barrdahl, M. (Myrto), Baynes, C. (Caroline), Beckmann, M. W. (Matthias W.), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L. (Louise), Broberg, P. (Per), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Caldes, T. (Trinidad), Canzian, F. (Federico), Carter, B. D. (Brian D.), Castelao, J. E. (J. Esteban), Chang-Claude, J. (Jenny), Chen, X. (Xiaoqing), Cheng, T. D. (Ting-Yuan David), Christiansen, H. (Hans), Clarke, C. L. (Christine L.), Collee, M. (Margriet), Cornelissen, S. (Sten), Couch, F. J. (Fergus J.), Cox, D. (David), Cox, A. (Angela), Cross, S. S. (Simon S.), Cunningham, J. M. (Julie M.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Doheny, K. F. (Kimberly F.), Dork, T. (Thilo), dos-Santos-Silva, I. (Isabel), Dumont, M. (Martine), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Eilber, U. (Ursula), Eliassen, A. H. (A. Heather), Engel, C. (Christoph), Eriksson, M. (Mikael), Fachal, L. (Laura), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fritschi, L. (Lin), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Gaudet, M. M. (Mia M.), Ghoussaini, M. (Maya), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hallberg, E. (Emily), Hamann, U. (Ute), Harrington, P. (Patricia), Hein, A. (Alexander), Hicks, B. (Belynda), Hillemanns, P. (Peter), Hollestelle, A. (Antoinette), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Huang, G. (Guanmengqian), Humphreys, K. (Keith), Hunter, D. J. (David J.), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Johnson, N. (Nichola), Jones, K. (Kristine), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kerin, M. J. (Michael J.), Khusnutdinova, E. (Elza), Kosma, V.-M. (Veli-Matti), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindstrom, S. (Sara), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loibl, S. (Sibylle), Lubinski, J. (Jan), Luccarini, C. (Craig), Lux, M. P. (Michael P.), MacInnis, R. J. (Robert J.), Maishman, T. (Tom), Kostovska, I. M. (Ivana Maleva), Mannermaa, A. (Arto), Manson, J. E. (Joann E.), Margolin, S. (Sara), Mavroudis, D. (Dimitrios), Meijers-Heijboer, H. (Hanne), Meindl, A. (Alfons), Menon, U. (Usha), Meyer, J. (Jeffery), Mulligan, A. M. (Anna Marie), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Olopade, O. I. (Olufunmilayo I.), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Peterlongo, P. (Paolo), Peto, J. (Julian), Plaseska-Karanfilska, D. (Dijana), Prentice, R. (Ross), Presneau, N. (Nadege), Pylkäs, K. (Katri), Rack, B. (Brigitte), Radice, P. (Paolo), Rahman, N. (Nazneen), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Romm, J. (Jane), Rudolph, A. (Anja), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Scott, R. J. (Rodney J.), Scott, C. G. (Christopher G.), Seal, S. (Sheila), Shah, M. (Mitul), Shrubsole, M. J. (Martha J.), Smeets, A. (Ann), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stone, J. (Jennifer), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. (William), Taylor, J. A. (Jack A.), Terry, M. B. (Mary Beth), Tessier, D. C. (Daniel C.), Thomas, A. (Abigail), Thone, K. (Kathrin), Tollenaar, R. A. (Rob A. E. M.), Torres, D. (Diana), Truong, T. (Therese), Untch, M. (Michael), Vachon, C. (Celine), Van den Berg, D. (David), Vincent, D. (Daniel), Waisfisz, Q. (Quinten), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Whittemore, A. S. (Alice S.), Wildiers, H. (Hans), Willett, W. C. (Walter C.), Winqvist, R. (Robert), Wolk, A. (Alicja), Xia, L. (Lucy), Yang, X. R. (Xiaohong R.), Ziogas, A. (Argyrios), Ziv, E. (Elad), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Simard, J. (Jacques), Milne, R. L. (Roger L.), Edwards, S. L. (Stacey L.), Kraft, P. (Peter), Easton, D. F. (Douglas F.), Chenevix-Trench, G. (Georgia), Zheng, W. (Wei), Wu, L. (Lang), Shi, W. (Wei), Long, J. (Jirong), Guo, X. (Xingyi), Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Bolla, M. K. (Manjeet K.), Shu, X.-O. (Xiao-Ou), Lu, Y. (Yingchang), Cai, Q. (Qiuyin), Al-Ejeh, F. (Fares), Rozali, E. (Esdy), Wang, Q. (Qin), Dennis, J. (Joe), Li, B. (Bingshan), Zeng, C. (Chenjie), Feng, H. (Helian), Gusev, A. (Alexander), Barfield, R. T. (Richard T.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Auer, P. L. (Paul L.), Barrdahl, M. (Myrto), Baynes, C. (Caroline), Beckmann, M. W. (Matthias W.), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L. (Louise), Broberg, P. (Per), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Caldes, T. (Trinidad), Canzian, F. (Federico), Carter, B. D. (Brian D.), Castelao, J. E. (J. Esteban), Chang-Claude, J. (Jenny), Chen, X. (Xiaoqing), Cheng, T. D. (Ting-Yuan David), Christiansen, H. (Hans), Clarke, C. L. (Christine L.), Collee, M. (Margriet), Cornelissen, S. (Sten), Couch, F. J. (Fergus J.), Cox, D. (David), Cox, A. (Angela), Cross, S. S. (Simon S.), Cunningham, J. M. (Julie M.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Doheny, K. F. (Kimberly F.), Dork, T. (Thilo), dos-Santos-Silva, I. (Isabel), Dumont, M. (Martine), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Eilber, U. (Ursula), Eliassen, A. H. (A. Heather), Engel, C. (Christoph), Eriksson, M. (Mikael), Fachal, L. (Laura), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fritschi, L. (Lin), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Gaudet, M. M. (Mia M.), Ghoussaini, M. (Maya), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hallberg, E. (Emily), Hamann, U. (Ute), Harrington, P. (Patricia), Hein, A. (Alexander), Hicks, B. (Belynda), Hillemanns, P. (Peter), Hollestelle, A. (Antoinette), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Huang, G. (Guanmengqian), Humphreys, K. (Keith), Hunter, D. J. (David J.), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Johnson, N. (Nichola), Jones, K. (Kristine), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kerin, M. J. (Michael J.), Khusnutdinova, E. (Elza), Kosma, V.-M. (Veli-Matti), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindstrom, S. (Sara), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loibl, S. (Sibylle), Lubinski, J. (Jan), Luccarini, C. (Craig), Lux, M. P. (Michael P.), MacInnis, R. J. (Robert J.), Maishman, T. (Tom), Kostovska, I. M. (Ivana Maleva), Mannermaa, A. (Arto), Manson, J. E. (Joann E.), Margolin, S. (Sara), Mavroudis, D. (Dimitrios), Meijers-Heijboer, H. (Hanne), Meindl, A. (Alfons), Menon, U. (Usha), Meyer, J. (Jeffery), Mulligan, A. M. (Anna Marie), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Olopade, O. I. (Olufunmilayo I.), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Peterlongo, P. (Paolo), Peto, J. (Julian), Plaseska-Karanfilska, D. (Dijana), Prentice, R. (Ross), Presneau, N. (Nadege), Pylkäs, K. (Katri), Rack, B. (Brigitte), Radice, P. (Paolo), Rahman, N. (Nazneen), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Romm, J. (Jane), Rudolph, A. (Anja), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Scott, R. J. (Rodney J.), Scott, C. G. (Christopher G.), Seal, S. (Sheila), Shah, M. (Mitul), Shrubsole, M. J. (Martha J.), Smeets, A. (Ann), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stone, J. (Jennifer), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. (William), Taylor, J. A. (Jack A.), Terry, M. B. (Mary Beth), Tessier, D. C. (Daniel C.), Thomas, A. (Abigail), Thone, K. (Kathrin), Tollenaar, R. A. (Rob A. E. M.), Torres, D. (Diana), Truong, T. (Therese), Untch, M. (Michael), Vachon, C. (Celine), Van den Berg, D. (David), Vincent, D. (Daniel), Waisfisz, Q. (Quinten), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Whittemore, A. S. (Alice S.), Wildiers, H. (Hans), Willett, W. C. (Walter C.), Winqvist, R. (Robert), Wolk, A. (Alicja), Xia, L. (Lucy), Yang, X. R. (Xiaohong R.), Ziogas, A. (Argyrios), Ziv, E. (Elad), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Simard, J. (Jacques), Milne, R. L. (Roger L.), Edwards, S. L. (Stacey L.), Kraft, P. (Peter), Easton, D. F. (Douglas F.), Chenevix-Trench, G. (Georgia), and Zheng, W. (Wei)
Abstract: The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify novel risk loci and likely causal genes, we performed a transcriptome-wide association study evaluating associations of genetically predicted gene expression with breast cancer risk in 122,977 cases and 105,974 controls of European ancestry. We used data from the Genotype-Tissue Expression Project to establish genetic models to predict gene expression in breast tissue and evaluated model performance using data from The Cancer Genome Atlas. Of the 8,597 genes evaluated, significant associations were identified for 48 at a Bonferroni-corrected threshold of P < 5.82 × 10−6, including 14 genes at loci not yet reported for breast cancer. We silenced 13 genes and showed an effect for 11 on cell proliferation and/or colony-forming efficiency. Our study provides new insights into breast cancer genetics and biology.
Published: 2018

32. The BRCA2 c.68‐7T > A variant is not pathogenic:a model for clinical calibration of spliceogenicity

Author: Colombo, M. (Mara), Lopez-Perolio, I. (Irene), Meeks, H. D. (Huong D.), Caleca, L. (Laura), Parsons, M. T. (Michael T.), Li, H. (Hongyan), De Vecchi, G. (Giovanna), Tudini, E. (Emma), Foglia, C. (Claudia), Mondini, P. (Patrizia), Manoukian, S. (Siranoush), Behar, R. (Raquel), Garcia, E. B. (Encarna B. Gomez), Meindl, A. (Alfons), Montagna, M. (Marco), Niederacher, D. (Dieter), Schmidt, A. Y. (Ane Y.), Varesco, L. (Liliana), Wappenschmidt, B. (Barbara), Bolla, M. K. (Manjeet K.), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Wang, Q. (Qin), Aittomäki, K. (Kristiina), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M. W. (Matthias W.), Beeghly-Fadel, A. (Alicia), Benitez, J. (Javier), Boeckx, B. (Bram), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Burwinkel, B. (Barbara), Chang-Claude, J. (Jenny), Conroy, D. M. (Don M.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Devilee, P. (Peter), Dork, T. (Thilo), Eriksson, M. (Mikael), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Gabrielson, M. (Marike), Garcia-Closas, M. (Montserrat), Giles, G. G. (Graham G.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Hartman, M. (Mikael), Hauke, J. (Jan), Hollestelle, A. (Antoinette), Hopper, J. L. (John L.), Jakubowska, A. (Anna), Jung, A. (Audrey), Kosma, V.-M. (Veli-Matti), Lambrechts, D. (Diether), Le Marchand, L. (Loid), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Margolin, S. (Sara), Miao, H. (Hui), Milne, R. L. (Roger L.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Olson, J. E. (Janet E.), Peterlongo, P. (Paolo), Peto, J. (Julian), Pylkäs, K. (Katri), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), See, M. H. (Mee Hoong), Southey, M. C. (Melissa C.), Swerdlow, A. (Anthony), Teo, S. H. (Soo H.), Toland, A. E. (Amanda E.), Tomlinson, I. (Ian), Truong, T. (Therese), van Asperen, C. J. (Christi J.), van den Ouweland, A. M. (Ans M. W.), van der Kolk, L. E. (Lizet E.), Winqvist, R. (Robert), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Dunning, A. M. (Alison M.), Easton, D. F. (Douglas F.), Henderson, A. (Alex), Hogervorst, F. B. (Frans B. L.), Izatt, L. (Louise), Offitt, K. (Kenneth), Side, L. E. (Lucy E.), van Rensburg, E. J. (Elizabeth J.), McGuffog, L. (Lesley), Antoniou, A. C. (Antonis C.), Chenevix-Trench, G. (Georgia), Spurdle, A. B. (Amanda B.), Goldgar, D. E. (David E.), de la Hoya, M. (Miguel), Radice, P. (Paolo), Colombo, M. (Mara), Lopez-Perolio, I. (Irene), Meeks, H. D. (Huong D.), Caleca, L. (Laura), Parsons, M. T. (Michael T.), Li, H. (Hongyan), De Vecchi, G. (Giovanna), Tudini, E. (Emma), Foglia, C. (Claudia), Mondini, P. (Patrizia), Manoukian, S. (Siranoush), Behar, R. (Raquel), Garcia, E. B. (Encarna B. Gomez), Meindl, A. (Alfons), Montagna, M. (Marco), Niederacher, D. (Dieter), Schmidt, A. Y. (Ane Y.), Varesco, L. (Liliana), Wappenschmidt, B. (Barbara), Bolla, M. K. (Manjeet K.), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Wang, Q. (Qin), Aittomäki, K. (Kristiina), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M. W. (Matthias W.), Beeghly-Fadel, A. (Alicia), Benitez, J. (Javier), Boeckx, B. (Bram), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Burwinkel, B. (Barbara), Chang-Claude, J. (Jenny), Conroy, D. M. (Don M.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Devilee, P. (Peter), Dork, T. (Thilo), Eriksson, M. (Mikael), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Gabrielson, M. (Marike), Garcia-Closas, M. (Montserrat), Giles, G. G. (Graham G.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Hartman, M. (Mikael), Hauke, J. (Jan), Hollestelle, A. (Antoinette), Hopper, J. L. (John L.), Jakubowska, A. (Anna), Jung, A. (Audrey), Kosma, V.-M. (Veli-Matti), Lambrechts, D. (Diether), Le Marchand, L. (Loid), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Margolin, S. (Sara), Miao, H. (Hui), Milne, R. L. (Roger L.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Olson, J. E. (Janet E.), Peterlongo, P. (Paolo), Peto, J. (Julian), Pylkäs, K. (Katri), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), See, M. H. (Mee Hoong), Southey, M. C. (Melissa C.), Swerdlow, A. (Anthony), Teo, S. H. (Soo H.), Toland, A. E. (Amanda E.), Tomlinson, I. (Ian), Truong, T. (Therese), van Asperen, C. J. (Christi J.), van den Ouweland, A. M. (Ans M. W.), van der Kolk, L. E. (Lizet E.), Winqvist, R. (Robert), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Dunning, A. M. (Alison M.), Easton, D. F. (Douglas F.), Henderson, A. (Alex), Hogervorst, F. B. (Frans B. L.), Izatt, L. (Louise), Offitt, K. (Kenneth), Side, L. E. (Lucy E.), van Rensburg, E. J. (Elizabeth J.), McGuffog, L. (Lesley), Antoniou, A. C. (Antonis C.), Chenevix-Trench, G. (Georgia), Spurdle, A. B. (Amanda B.), Goldgar, D. E. (David E.), de la Hoya, M. (Miguel), and Radice, P. (Paolo)
Abstract: Although the spliceogenic nature of the BRCA2 c.68‐7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real‐time PCR and digital PCR (dPCR), the BRCA2 isoforms retaining or missing exon 3. In addition, the combined odds ratio for causality of the variant was estimated using genetic and clinical data, and its associated cancer risk was estimated by case‐control analysis in 83,636 individuals. Co‐occurrence in trans with pathogenic BRCA2 variants was assessed in 5,382 families. Exon 3 exclusion rate was 4.5‐fold higher in variant carriers (13%) than controls (3%), indicating an exclusion rate for the c.68‐7T > A allele of approximately 20%. The posterior probability of pathogenicity was 7.44 × 10⁻¹¹⁵. There was neither evidence for increased risk of breast cancer (OR 1.03; 95% CI 0.86–1.24) nor for a deleterious effect of the variant when co‐occurring with pathogenic variants. Our data provide for the first time robust evidence of the nonpathogenicity of the BRCA2 c.68‐7T > A. Genetic and quantitative transcript analyses together inform the threshold for the ratio between functional and altered BRCA2 isoforms compatible with normal cell function. These findings might be exploited to assess the relevance for cancer risk of other BRCA2 spliceogenic variants.
Published: 2018

33. John Bell on civility and worship

Author: Rice, Megan, DeGroat, Chuck, Bell, John L. (John Lamberton), 1949, Rienstra, Ron, 1965, Rice, Megan, DeGroat, Chuck, Bell, John L. (John Lamberton), 1949, and Rienstra, Ron, 1965
Abstract: This episode features Scottish worship leader and liturgist, John Bell. Dr. Ron Rienstra sat down with John to discuss how worship and story can connect us despite divisions.
Published: 2018

34. The Anorexia Nervosa Genetics Initiative (ANGI):Overview and methods

Author: Thornton, Laura M., Munn-Chernoff, Melissa A., Baker, Jessica H., Juréus, Anders, Parker, Richard, Henders, Anjali K., Larsen, Janne T., Petersen, Liselotte, Watson, Hunna J., Yilmaz, Zeynep, Kirk, Katherine M., Gordon, Scott, Leppä, Virpi M., Martin, Felicity C., Whiteman, David C., Olsen, Catherine M., Werge, Thomas M., Pedersen, Nancy L., Kaye, Walter, Bergen, Andrew W., Halmi, Katherine A., Strober, Michael, Kaplan, Allan S., Woodside, D. Blake, Mitchell, James, Johnson, Craig L., Brandt, Harry, Crawford, Steven, Horwood, L. John, Boden, Joseph M., Pearson, John F., Duncan, Laramie E., Grove, Jakob, Mattheisen, Manuel, Jordan, Jennifer, Kennedy, Martin A., Birgegård, Andreas, Lichtenstein, Paul, Norring, Claes, Wade, Tracey D., Montgomery, Grant W., Martin, Nicholas G., Landén, Mikael, Mortensen, Preben Bo, Sullivan, Patrick F., Bulik, Cynthia M., Thornton, Laura M., Munn-Chernoff, Melissa A., Baker, Jessica H., Juréus, Anders, Parker, Richard, Henders, Anjali K., Larsen, Janne T., Petersen, Liselotte, Watson, Hunna J., Yilmaz, Zeynep, Kirk, Katherine M., Gordon, Scott, Leppä, Virpi M., Martin, Felicity C., Whiteman, David C., Olsen, Catherine M., Werge, Thomas M., Pedersen, Nancy L., Kaye, Walter, Bergen, Andrew W., Halmi, Katherine A., Strober, Michael, Kaplan, Allan S., Woodside, D. Blake, Mitchell, James, Johnson, Craig L., Brandt, Harry, Crawford, Steven, Horwood, L. John, Boden, Joseph M., Pearson, John F., Duncan, Laramie E., Grove, Jakob, Mattheisen, Manuel, Jordan, Jennifer, Kennedy, Martin A., Birgegård, Andreas, Lichtenstein, Paul, Norring, Claes, Wade, Tracey D., Montgomery, Grant W., Martin, Nicholas G., Landén, Mikael, Mortensen, Preben Bo, Sullivan, Patrick F., and Bulik, Cynthia M.
Abstract: Background: Genetic factors contribute to anorexia nervosa (AN); and the first genome-wide significant locus has been identified. We describe methods and procedures for the Anorexia Nervosa Genetics Initiative (ANGI), an international collaboration designed to rapidly recruit 13,000 individuals with AN and ancestrally matched controls. We present sample characteristics and the utility of an online eating disorder diagnostic questionnaire suitable for large-scale genetic and population research. Methods: ANGI recruited from the United States (US), Australia/New Zealand (ANZ), Sweden (SE), and Denmark (DK). Recruitment was via national registers (SE, DK); treatment centers (US, ANZ, SE, DK); and social and traditional media (US, ANZ, SE). All cases had a lifetime AN diagnosis based on DSM-IV or ICD-10 criteria (excluding amenorrhea). Recruited controls had no lifetime history of disordered eating behaviors. To assess the positive and negative predictive validity of the online eating disorder questionnaire (ED100K-v1), 109 women also completed the Structured Clinical Interview for DSM-IV (SCID), Module H. Results: Blood samples and clinical information were collected from 13,363 individuals with lifetime AN and from controls. Online diagnostic phenotyping was effective and efficient; the validity of the questionnaire was acceptable. Conclusions: Our multi-pronged recruitment approach was highly effective for rapid recruitment and can be used as a model for efforts by other groups. High online presence of individuals with AN rendered the Internet/social media a remarkably effective recruitment tool in some countries. ANGI has substantially augmented Psychiatric Genomics Consortium AN sample collection. ANGI is a registered clinical trial: clinicaltrials.govNCT01916538; https://clinicaltrials.gov/ct2/show/NCT01916538?cond=Anorexia+Nervosa&draw=1&rank=3.
Published: 2018

35. Cohesion: An Overview for the Teacher of Reading. Revised.

Author: Chapman, L. John
Abstract: Pronouns, substitutes, elipses, conjunctions, synonyms, antonyms, superordinates and subordinates, and part-whole relations all provide cohesive ties that help a reader understand text. A study at Britain's Open University (England) has revealed the way in which the perception of cohesive ties is achieved as children's reading ability grows. Explanations of the effects of cohesive ties must also take into account the writing of text. Most authors keep their reader's level of knowledge in mind when they write, using this estimate as the basis of how explicit or implicit they make the text. (JL)
Published: 1982

36. Reading Development and Cohesion.

Author: Chapman, L. John
Abstract: The purpose of this book is to show how teaching reading involves all teachers. The book first explains how decades of change in Britain have affected school organization, knowledge, teacher education, and the concept of reading. Chapter 2 examines an expanded concept of reading, while chapter 3 explores language development and reading, including factors concerning language ability that are implicit, not taught. Chapter 4 describes how linguistic mechanisms appear to work and the main elements of the reference system of cohesive ties, chapter 5 discusses the cohesive effects of substitution and ellipsis, and chapter 6 shows how conjunctions function in a different way from previously discussed types of cohesion. Chapter 7 examines the concept of lexical cohesion and its two forms, reiteration and collocation, and chapter 8 discusses the history of research and application involving the cloze procedure. The final chapter extends and synthesizes the main ideas from the preceding chapters into statements for teachers about reading. Tables of findings and illustrations are included. Appendixes contain material on sentence links, an example from experimental materials on pronouns, and a summary table of conjunctive relations. (EL)
Published: 1983

37. PHIP:a novel candidate breast cancer susceptibility locus on 6q14.1

Author: Jiao, X. (Xiang), Aravidis, C. (Christos), Marikkannu, R. (Rajeshwari), Rantala, J. (Johanna), Picelli, S. (Simone), Adamovic, T. (Tatjana), Liu, T. (Tao), Maguire, P. (Paula), Kremeyer, B. (Barbara), Luo, L. (Liping), Von Holst, S. (Susanna), Kontham, V. (Vinaykumar), Thutkawkorapin, J. (Jessada), Margolin, S. (Sara), Du, Q. (Quan), Lundin, J. (Johanna), Michailidou, K. (Kyriaki), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Lush, M. (Michael), Ambrosone, C. B. (Christine B.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Beckmann, M. W. (Matthias W.), Blomqvist, C. (Carl), Blot, W. (William), Boeckx, B. (Bram), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Brand, J. S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Broeks, A. (Annegien), Bruning, T. (Thomas), Burwinkel, B. (Barbara), Cai, Q. (Qiuyin), Chang-Claude, J. (Jenny), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Deming-Halverson, S. L. (Sandra L.), Devilee, P. (Peter), dos-Santos-Silva, I. (Isabel), Dork, T. (Thilo), Eriksson, M. (Mikael), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gabrielson, M. (Marike), Garcia-Closas, M. (Montserrat), Giles, G. G. (Graham G.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Guo, Q. (Qi), Gundert, M. (Melanie), Haiman, C. A. (Christopher A.), Hallberg, E. (Emily), Hamann, U. (Ute), Harrington, P. (Patricia), Hooning, M. J. (Maartje J.), Hopper, J. L. (John L.), Huang, G. (Guanmengqian), Jakubowska, A. (Anna), Jones, M. E. (Michael E.), Kerin, M. J. (Michael J.), Kosma, V.-M. (Veli-Matti), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lubinski, J. (Jan), Mannermaa, A. (Arto), Martens, J. W. (John W. M.), Meindl, A. (Alfons), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Peto, J. (Julian), Pylkas, K. (Katri), Radice, P. (Paolo), Rhenius, V. (Valerie), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Seynaeve, C. (Caroline), Shah, M. (Mitul), Simard, J. (Jacques), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Truong, T. (Therese), Wendt, C. (Camilla), Winqvist, R. (Robert), Zheng, W. (Wei), Benitez, J. (Javier), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Czene, K. (Kamila), Hall, P. (Per), Lindblom, A. (Annika), Jiao, X. (Xiang), Aravidis, C. (Christos), Marikkannu, R. (Rajeshwari), Rantala, J. (Johanna), Picelli, S. (Simone), Adamovic, T. (Tatjana), Liu, T. (Tao), Maguire, P. (Paula), Kremeyer, B. (Barbara), Luo, L. (Liping), Von Holst, S. (Susanna), Kontham, V. (Vinaykumar), Thutkawkorapin, J. (Jessada), Margolin, S. (Sara), Du, Q. (Quan), Lundin, J. (Johanna), Michailidou, K. (Kyriaki), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Lush, M. (Michael), Ambrosone, C. B. (Christine B.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Beckmann, M. W. (Matthias W.), Blomqvist, C. (Carl), Blot, W. (William), Boeckx, B. (Bram), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Brand, J. S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Broeks, A. (Annegien), Bruning, T. (Thomas), Burwinkel, B. (Barbara), Cai, Q. (Qiuyin), Chang-Claude, J. (Jenny), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Deming-Halverson, S. L. (Sandra L.), Devilee, P. (Peter), dos-Santos-Silva, I. (Isabel), Dork, T. (Thilo), Eriksson, M. (Mikael), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gabrielson, M. (Marike), Garcia-Closas, M. (Montserrat), Giles, G. G. (Graham G.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Guo, Q. (Qi), Gundert, M. (Melanie), Haiman, C. A. (Christopher A.), Hallberg, E. (Emily), Hamann, U. (Ute), Harrington, P. (Patricia), Hooning, M. J. (Maartje J.), Hopper, J. L. (John L.), Huang, G. (Guanmengqian), Jakubowska, A. (Anna), Jones, M. E. (Michael E.), Kerin, M. J. (Michael J.), Kosma, V.-M. (Veli-Matti), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lubinski, J. (Jan), Mannermaa, A. (Arto), Martens, J. W. (John W. M.), Meindl, A. (Alfons), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Peto, J. (Julian), Pylkas, K. (Katri), Radice, P. (Paolo), Rhenius, V. (Valerie), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Seynaeve, C. (Caroline), Shah, M. (Mitul), Simard, J. (Jacques), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Truong, T. (Therese), Wendt, C. (Camilla), Winqvist, R. (Robert), Zheng, W. (Wei), Benitez, J. (Javier), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Czene, K. (Kamila), Hall, P. (Per), and Lindblom, A. (Annika)
Abstract: Most non-BRCA1/2 breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on chromosome 6q. Two independent genome-wide linkage analysis studies suggested a 3 Mb locus on chromosome 6q and two unrelated Swedish families with a LOD >2 together seemed to share a haplotype in 6q14.1. We hypothesized that this region harbored a rare high-risk founder allele contributing to breast cancer in these two families. Sequencing of DNA and RNA from the two families did not detect any pathogenic mutations. Finally, 29 SNPs in the region were analyzed in 44,214 cases and 43,532 controls from BCAC, and the original haplotypes in the two families were suggested as low-risk alleles for European and Swedish women specifically. There was also some support for one additional independent moderate-risk allele in Swedish familial samples. The results were consistent with our previous findings in familial breast cancer and supported a breast cancer susceptibility locus at 6q14.1 around the PHIP gene.
Published: 2017

38. Body mass index and breast cancer survival:a Mendelian randomization analysis

Author: Guo, Q. (Qi), Burgess, S. (Stephen), Turman, C. (Constance), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Lush, M. (Michael), Abraham, J. (Jean), Aittomaki, K. (Kristiina), Andrulis, I. L. (Irene L.), Apicella, C. (Carmel), Arndt, V. (Volker), Barrdahl, M. (Myrto), Benitez, J. (Javier), Berg, C. D. (Christine D.), Blomqvist, C. (Carl), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Brand, J. S. (Judith S.), Brenner, H. (Hermann), Broeks, A. (Annegien), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Campa, D. (Daniele), Canzian, F. (Federico), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chin, S.-F. (Suet-Feung), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Cybulski, C. (Cezary), Czene, K. (Kamila), Darabi, H. (Hatef), Devilee, P. (Peter), Diver, W. R. (W. Ryan), Dunning, A. M. (Alison M.), Earl, H. M. (Helena M.), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gapstur, S. M. (Susan M.), Gaudet, M. M. (Mia M.), Giles, G. G. (Graham G.), Glendon, G. (Gord), Grip, M. (Mervi), Gronwald, J. (Jacek), Haeberle, L. (Lothar), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Hankinson, S. (Susan), Hartikainen, J. M. (Jaana M.), Hein, A. (Alexander), Hiller, L. (Louise), Hogervorst, F. B. (Frans B.), Holleczek, B. (Bernd), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Humphreys, K. (Keith), Hunter, D. J. (David J.), Husing, A. (Anika), Jakubowska, A. (Anna), Jukkola-Vuorinen, A. (Arja), Kaaks, R. (Rudolf), Kabisch, M. (Maria), Kataja, V. (Vesa), Knight, J. A. (Julia A.), Koppert, L. B. (Linetta B.), Kosma, V.-M. (Veli-Matti), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lindstrom, S. (Sara), Lissowska, J. (Jolanta), Lubinski, J. (Jan), Machiela, M. J. (Mitchell J.), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federik), Martens, J. W. (John W. M.), McLean, C. (Catriona), Menendez, P. (Primitiva), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Olson, J. E. (Janet E.), Perez, J. I. (Jose I. A.), Peterlongo, P. (Paolo), Phillips, K.-A. (Kelly-Anne), Poole, C. J. (Christopher J.), Pylkas, K. (Katri), Radice, P. (Paolo), Rahman, N. (Nazneen), Rudiger, T. (Thomas), Rudolph, A. (Anja), Sawyer, E. J. (Elinor J.), Schumacher, F. (Fredrick), Seibold, P. (Petra), Seynaeve, C. (Caroline), Shah, M. (Mitul), Smeets, A. (Ann), Southey, M. C. (Melissa C.), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Tsimiklis, H. (Helen), Ulmer, H.-U. (Hans-Ulrich), Vachon, C. (Celine), van den Ouweland, A. M. (Ans M. W.), Van't Veer, L. J. (Laura J.), Wildiers, H. (Hans), Willett, W. (Walter), Winqvist, R. (Robert), Zamora, M. P. (M. Pilar), Chenevix-Trench, G. (Georgia), Dork, T. (Thilo), Easton, D. F. (Douglas F.), Garcia-Closas, M. (Montserrat), Kraft, P. (Peter), Hopper, J. L. (John L.), Zheng, W. (Wei), Schmidt, M. K. (Marjanka K.), Pharoah, P. D. (Paul D. P.), Guo, Q. (Qi), Burgess, S. (Stephen), Turman, C. (Constance), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Lush, M. (Michael), Abraham, J. (Jean), Aittomaki, K. (Kristiina), Andrulis, I. L. (Irene L.), Apicella, C. (Carmel), Arndt, V. (Volker), Barrdahl, M. (Myrto), Benitez, J. (Javier), Berg, C. D. (Christine D.), Blomqvist, C. (Carl), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Brand, J. S. (Judith S.), Brenner, H. (Hermann), Broeks, A. (Annegien), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Campa, D. (Daniele), Canzian, F. (Federico), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chin, S.-F. (Suet-Feung), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Cybulski, C. (Cezary), Czene, K. (Kamila), Darabi, H. (Hatef), Devilee, P. (Peter), Diver, W. R. (W. Ryan), Dunning, A. M. (Alison M.), Earl, H. M. (Helena M.), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gapstur, S. M. (Susan M.), Gaudet, M. M. (Mia M.), Giles, G. G. (Graham G.), Glendon, G. (Gord), Grip, M. (Mervi), Gronwald, J. (Jacek), Haeberle, L. (Lothar), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Hankinson, S. (Susan), Hartikainen, J. M. (Jaana M.), Hein, A. (Alexander), Hiller, L. (Louise), Hogervorst, F. B. (Frans B.), Holleczek, B. (Bernd), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Humphreys, K. (Keith), Hunter, D. J. (David J.), Husing, A. (Anika), Jakubowska, A. (Anna), Jukkola-Vuorinen, A. (Arja), Kaaks, R. (Rudolf), Kabisch, M. (Maria), Kataja, V. (Vesa), Knight, J. A. (Julia A.), Koppert, L. B. (Linetta B.), Kosma, V.-M. (Veli-Matti), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lindstrom, S. (Sara), Lissowska, J. (Jolanta), Lubinski, J. (Jan), Machiela, M. J. (Mitchell J.), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federik), Martens, J. W. (John W. M.), McLean, C. (Catriona), Menendez, P. (Primitiva), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Olson, J. E. (Janet E.), Perez, J. I. (Jose I. A.), Peterlongo, P. (Paolo), Phillips, K.-A. (Kelly-Anne), Poole, C. J. (Christopher J.), Pylkas, K. (Katri), Radice, P. (Paolo), Rahman, N. (Nazneen), Rudiger, T. (Thomas), Rudolph, A. (Anja), Sawyer, E. J. (Elinor J.), Schumacher, F. (Fredrick), Seibold, P. (Petra), Seynaeve, C. (Caroline), Shah, M. (Mitul), Smeets, A. (Ann), Southey, M. C. (Melissa C.), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Tsimiklis, H. (Helen), Ulmer, H.-U. (Hans-Ulrich), Vachon, C. (Celine), van den Ouweland, A. M. (Ans M. W.), Van't Veer, L. J. (Laura J.), Wildiers, H. (Hans), Willett, W. (Walter), Winqvist, R. (Robert), Zamora, M. P. (M. Pilar), Chenevix-Trench, G. (Georgia), Dork, T. (Thilo), Easton, D. F. (Douglas F.), Garcia-Closas, M. (Montserrat), Kraft, P. (Peter), Hopper, J. L. (John L.), Zheng, W. (Wei), Schmidt, M. K. (Marjanka K.), and Pharoah, P. D. (Paul D. P.)
Abstract: Background: There is increasing evidence that elevated body mass index (BMI) is associated with reduced survival for women with breast cancer. However, the underlying reasons remain unclear. We conducted a Mendelian randomization analysis to investigate a possible causal role of BMI in survival from breast cancer. Methods: We used individual-level data from six large breast cancer case-cohorts including a total of 36 210 individuals (2475 events) of European ancestry. We created a BMI genetic risk score (GRS) based on genotypes at 94 known BMI-associated genetic variants. Association between the BMI genetic score and breast cancer survival was analysed by Cox regression for each study separately. Study-specific hazard ratios were pooled using fixed-effect meta-analysis. Results: BMI genetic score was found to be associated with reduced breast cancer-specific survival for estrogen receptor (ER)-positive cases [hazard ratio (HR) = 1.11, per one-unit increment of GRS, 95% confidence interval (CI) 1.01–1.22, P = 0.03). We observed no association for ER-negative cases (HR = 1.00, per one-unit increment of GRS, 95% CI 0.89–1.13, P = 0.95). Conclusions: Our findings suggest a causal effect of increased BMI on reduced breast cancer survival for ER-positive breast cancer. There is no evidence of a causal effect of higher BMI on survival for ER-negative breast cancer cases.
Published: 2017

39. High Efficiency High Gain Heavy Ion Direct Drive Targets

Author: Perkins, L. John, Perkins, L. John, Logan, B. Grant, Barnard, John J., Hay, Michael J., Perkins, L. John, Perkins, L. John, Logan, B. Grant, Barnard, John J., and Hay, Michael J.
Published: 2010

40. Exhibition Brochure, Stepwells of Ahmedabad

Author: K. Gajjar, M. Doshi, N. Jain, P. Sheth, R. Tayyibji, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, J. Niyazi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, Chrysalis Communications, Anthill Design, J. Mistry, M. Panchal, S. Sharma, K. Gajjar, M. Doshi, N. Jain, P. Sheth, R. Tayyibji, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, J. Niyazi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, Chrysalis Communications, Anthill Design, J. Mistry, M. Panchal, and S. Sharma
Abstract: This exhibition is a collaborative effort of a diverse group of researchers, practitioners, young graduates, students and concerned citizens to bring to light important aspects of the city of Ahmedabad. This first endeavor is a documentation of 16 stepwells in and around the city hoping to garner interest and raise discussions not only about the structures themselves, but also larger issues of water, settlement patterns and social relationships to which these stepwells are connected. Within this framework, the exhibition aims to start a conversation on their present condition, their value and the issues of heritage in the context of the city.
Published: 2016

41. Maps and Comparative Drawings

Author: R. Tayyibji, K. Gajjar, M. Doshi, N. Jain, P. Sheth, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, J. Niyazi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, J. Mistry, M. Panchal, S. Sharma, Crysallis Communications, Anthill Design, R. Tayyibji, K. Gajjar, M. Doshi, N. Jain, P. Sheth, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, J. Niyazi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, J. Mistry, M. Panchal, S. Sharma, Crysallis Communications, and Anthill Design
Published: 2016

42. Exhibition Stepwells of Ahmedabad at Kanoria Centre for Arts

Author: K. Gajjar, M. Doshi, N. Jain, P. Sheth, R. Tayyibji, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, J. Niyazi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, Chrysalis Communications, Anthil Design, J. Mistry, M. Panchal, S. Sharma, K. Gajjar, M. Doshi, N. Jain, P. Sheth, R. Tayyibji, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, J. Niyazi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, Chrysalis Communications, Anthil Design, J. Mistry, M. Panchal, and S. Sharma
Abstract: This exhibition is a collaborative effort of a diverse group of researchers, practitioners, young graduates, students and concerned citizens to bring to light important aspects of the city of Ahmedabad. This first endeavor is a documentation of 16 stepwells in and around the city hoping to garner interest and raise discussions not only about the structures themselves, but also larger issues of water, settlement patterns and social relationships to which these stepwells are connected. Within this framework, the exhibition aims to start a conversation on their present condition, their value and the issues of heritage in the context of the city.
Published: 2016

43. Stepwells of Ahmedabad: A conversation on water and heritage

Author: R. Tayyibji, K. Gajjar, M. Doshi, N. Jain, P. Sheth, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, J. Niyazi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, J. Mistry, M. Panchal, S. Sharma, Chrysalis Communications, Anthill Design, R. Tayyibji, K. Gajjar, M. Doshi, N. Jain, P. Sheth, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, J. Niyazi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, J. Mistry, M. Panchal, S. Sharma, Chrysalis Communications, and Anthill Design
Abstract: This exhibition is a collaborative effort of a diverse group of researchers, practitioners, young graduates, students and concerned citizens to bring to light important aspects of the city of Ahmedabad. This first endeavor is a documentation of 16 stepwells in and around the city hoping to garner interest and raise discussions not only about the structures themselves, but also larger issues of water, settlement patterns and social relationships to which these stepwells are connected. Within this framework, the exhibition aims to start a conversation on their present condition, their value and the issues of heritage in the context of the city.
Published: 2016

44. Jethabhai ni Vaav, Isanpur

Author: Anthill Design, R. Tayyibji, Chrysalis Communications, K. Gajjar, M. Doshi, N. Jain, P. Sheth, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, J. Mistry, M. Panchal, S. Sharma, Anthill Design, R. Tayyibji, Chrysalis Communications, K. Gajjar, M. Doshi, N. Jain, P. Sheth, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, J. Mistry, M. Panchal, and S. Sharma
Published: 2016

45. Maata Bhavani ni Vaav, Asarwa

Author: Anthill Design, R. Tayyibji, K. Gajjar, M. Doshi, N. Jain, Chrysalis Communications, P. Sheth, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, J. Mistry, M. Panchal, S. Sharma, Anthill Design, R. Tayyibji, K. Gajjar, M. Doshi, N. Jain, Chrysalis Communications, P. Sheth, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, J. Mistry, M. Panchal, and S. Sharma
Published: 2016

46. Ashapura Maata ni Vaav, Khodiyar Maata ni Vaav, Kali Maata ni Vaav; Bapunagar

Author: Anthill Design, Chrysalis Communications, R. Tayyibji, K. Gajjar, M. Doshi, N. Jain, P. Sheth, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, J. Mistry, M. Panchal, S. Sharma, Anthill Design, Chrysalis Communications, R. Tayyibji, K. Gajjar, M. Doshi, N. Jain, P. Sheth, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, J. Mistry, M. Panchal, and S. Sharma
Published: 2016

47. Gandharva Vaav, Saraspur

Author: Anthill Design, R. Tayyibji, Chrysalis Communications, K. Gajjar, M. Doshi, N. Jain, P. Sheth, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, J. Mistry, M. Panchal, S. Sharma, Anthill Design, R. Tayyibji, Chrysalis Communications, K. Gajjar, M. Doshi, N. Jain, P. Sheth, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, J. Mistry, M. Panchal, and S. Sharma
Published: 2016

48. Amritavarshini Vaav, Panchkuva

Author: Anthill Design, Chrysalis Communications, R. Tayyibji, K. Gajjar, M. Doshi, N. Jain, P. Sheth, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, J. Mistry, M. Panchal, S. Sharma, Anthill Design, Chrysalis Communications, R. Tayyibji, K. Gajjar, M. Doshi, N. Jain, P. Sheth, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, J. Mistry, M. Panchal, and S. Sharma
Published: 2016

49. Vaav at Vadaj

Author: Anthill Design, R. Tayyibji, Chrysalis Communications, K. Gajjar, M. Doshi, N. Jain, P. Sheth, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, J. Mistry, M. Panchal, S. Sharma, Anthill Design, R. Tayyibji, Chrysalis Communications, K. Gajjar, M. Doshi, N. Jain, P. Sheth, T. Jain, B. Ramrakhiani, B. Shukla, S. Bhatt, A. Sheth, D. Dwivedi, N. Shah, P. Bhende, R. Payuva, V. Raja, L. John, M. Malukani, R. Patel, J. Mistry, M. Panchal, and S. Sharma
Published: 2016

50. PALB2, CHEK2 and ATM rare variants and cancer risk:data from COGS

Author: Southey, M. C. (Melissa C.), Goldgar, D. E. (David E.), Winqvist, R. (Robert), Pylkäs, K. (Katri), Couch, F. (Fergus), Tischkowitz, M. (Marc), Foulkes, W. D. (William D.), Dennis, J. (Joe), Michailidou, K. (Kyriaki), van Rensburg, E. J. (Elizabeth J.), Heikkinen, T. (Tuomas), Nevanlinna, H. (Heli), Hopper, J. L. (John L.), Doerk, T. (Thilo), Claes, K. B. (Kathleen B. M.), Reis-Filho, J. (Jorge), Teo, Z. L. (Zhi Ling), Radice, P. (Paolo), Catucci, I. (Irene), Peterlongo, P. (Paolo), Tsimiklis, H. (Helen), Odefrey, F. A. (Fabrice A.), Dowty, J. G. (James G.), Schmidt, M. K. (Marjanka K.), Broeks, A. (Annegien), Hogervorst, F. B. (Frans B.), Verhoef, S. (Senno), Carpenter, J. (Jane), Clarke, C. (Christine), Scott, R. J. (Rodney J.), Fasching, P. A. (Peter A.), Haeberle, L. (Lothar), Ekici, A. B. (Arif B.), Beckmann, M. W. (Matthias W.), Peto, J. (Julian), dos-Santos-Silva, I. (Isabel), Fletcher, O. (Olivia), Johnson, N. (Nichola), Bolla, M. K. (Manjeet K.), Sawyer, E. J. (Elinor J.), Tomlinson, I. (Ian), Kerin, M. J. (Michael J.), Miller, N. (Nicola), Marme, F. (Federik), Burwinkel, B. (Barbara), Yang, R. (Rongxi), Guenel, P. (Pascal), . (), Menegaux, F. (Florence), Sanchez, M. (Marie), Bojesen, S. (Stig), Nielsen, S. F. (Sune F.), Flyger, H. (Henrik), Benitez, J. (Javier), Pilar Zamora, M. (M.), Arias Perez, J. I. (Jose Ignacio), Menendez, P. (Primitiva), Anton-Culver, H. (Hoda), Neuhausen, S. (Susan), Ziogas, A. (Argyrios), Clarke, C. A. (Christina A.), Brenner, H. (Hermann), Arndt, V. (Volker), Stegmaier, C. (Christa), Brauch, H. (Hiltrud), Bruening, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Muranen, T. A. (Taru A.), Aittomaki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia V.), Antonenkova, N. N. (Natalia N.), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V.-M. (Veli-Matti), Hartikainen, J. M. (Jaana M.), Spurdle, A. B. (Amanda B.), Wauters, E. (Els), Smeets, D. (Dominiek), Beuselinck, B. (Benoit), Floris, G. (Giuseppe), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Olson, J. E. (Janet E.), Vachon, C. (Celine), Pankratz, V. S. (Vernon S.), McLean, C. (Catriona), Haiman, C. A. (Christopher A.), Henderson, B. E. (Brian E.), Schumacher, F. (Fredrick), Le Marchand, L. (Loic), Kristensen, V. (Vessela), Alnaes, G. G. (Grethe Grenaker), Zheng, W. (Wei), Hunter, D. J. (David J.), Lindstrom, S. (Sara), Hankinson, S. E. (Susan E.), Kraft, P. (Peter), Andrulis, I. (Irene), Knight, J. A. (Julia A.), Glendon, G. (Gord), Mulligan, A. M. (Anna Marie), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Kauppila, S. (Saila), Devilee, P. (Peter), Tollenaar, R. A. (Robert A. E. M.), Seynaeve, C. (Caroline), Hollestelle, A. (Antoinette), Garcia-Closas, M. (Montserrat), Figueroa, J. (Jonine), Chanock, S. J. (Stephen J.), Lissowska, J. (Jolanta), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Eccles, D. M. (Diana M.), Rafiq, S. (Sajjad), Tapper, W. J. (William J.), Gerty, S. M. (Sue M.), Hooning, M. J. (Maartje J.), Martens, J. W. (John W. M.), Collee, J. M. (J. Margriet), Tilanus-Linthorst, M. (Madeleine), Hall, P. (Per), Li, J. (Jingmei), Brand, J. S. (Judith S.), Humphreys, K. (Keith), Cox, A. (Angela), Reed, M. W. (Malcolm W. R.), Luccarini, C. (Craig), Baynes, C. (Caroline), Dunning, A. M. (Alison M.), Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H. U. (Hans Ulrich), Ruediger, T. (Thomas), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Slager, S. (Susan), Toland, A. E. (Amanda E.), Ambrosone, C. B. (Christine B.), Yannoukakos, D. (Drakoulis), Swerdlow, A. (Anthony), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Gonzalez-Neira, A. (Anna), Pita, G. (Guillermo), Rosario Alonso, M. (M.), Alvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D. C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Simard, J. (Jacques), Dumont, M. (Martine), Soucy, P. (Penny), Eeles, R. (Rosalind), Muir, K. (Kenneth), Wiklund, F. (Fredrik), Gronberg, H. (Henrik), Schleutker, J. (Johanna), Nordestgaard, B. G. (Borge G.), Weischer, M. (Maren), Travis, R. C. (Ruth C.), Neal, D. (David), Donovan, J. L. (Jenny L.), Hamdy, F. C. (Freddie C.), Khaw, K.-T. (Kay-Tee), Stanford, J. L. (Janet L.), Blot, W. J. (William J.), Thibodeau, S. (Stephen), Schaid, D. J. (Daniel J.), Kelley, J. L. (Joseph L.), Maier, C. (Christiane), Kibel, A. S. (Adam S.), Cybulski, C. (Cezary), Cannon-Albright, L. (Lisa), Butterbach, K. (Katja), Park, J. (Jong), Kaneva, R. (Radka), Batra, J. (Jyotsna), Teixeira, M. R. (Manuel R.), Kote-Jarai, Z. (Zsofia), Al Olama, A. A. (Ali Amin), Benlloch, S. (Sara), Renner, S. P. (Stefan P.), Hartmann, A. (Arndt), Hein, A. (Alexander), Ruebner, M. (Matthias), Lambrechts, D. (Diether), Van Nieuwenhuysen, E. (Els), Vergote, I. (Ignace), Lambretchs, S. (Sandrina), Doherty, J. A. (Jennifer A.), Rossing, M. A. (Mary Anne), Nickels, S. (Stefan), Eilber, U. (Ursula), Wang-Gohrke, S. (Shan), Odunsi, K. (Kunle), Sucheston-Campbell, L. E. (Lara E.), Friel, G. (Grace), Lurie, G. (Galina), Killeen, J. L. (Jeffrey L.), Wilkens, L. R. (Lynne R.), Goodman, M. T. (Marc T.), Runnebaum, I. (Ingo), Hillemanns, P. A. (Peter A.), Pelttari, L. M. (Liisa M.), Butzow, R. (Ralf), Modugno, F. (Francesmary), Edwards, R. P. (Robert P.), Ness, R. B. (Roberta B.), Moysich, K. B. (Kirsten B.), du Bois, A. (Andreas), Heitz, F. (Florian), Harter, P. (Philipp), Kommoss, S. (Stefan), Karlan, B. Y. (Beth Y.), Walsh, C. (Christine), Lester, J. (Jenny), Jensen, A. (Allan), Kjaer, S. K. (Susanne Kruger), Hogdall, E. (Estrid), Peissel, B. (Bernard), Bonanni, B. (Bernardo), Bernard, L. (Loris), Goode, E. L. (Ellen L.), Fridley, B. L. (Brooke L.), Vierkant, R. A. (Robert A.), Cunningham, J. M. (Julie M.), Larson, M. C. (Melissa C.), Fogarty, Z. C. (Zachary C.), Kalli, K. R. (Kimberly R.), Liang, D. (Dong), Lu, K. H. (Karen H.), Hildebrandt, M. A. (Michelle A. T.), Wu, X. (Xifeng), Levine, D. A. (Douglas A.), Dao, F. (Fanny), Bisogna, M. (Maria), Berchuck, A. (Andrew), Iversen, E. S. (Edwin S.), Marks, J. R. (Jeffrey R.), Akushevich, L. (Lucy), Cramer, D. W. (Daniel W.), Schildkraut, J. (Joellen), Terry, K. L. (Kathryn L.), Poole, E. M. (Elizabeth M.), Stampfer, M. (Meir), Tworoger, S. S. (Shelley S.), Bandera, E. V. (Elisa V.), Orlow, I. (Irene), Olson, S. H. (Sara H.), Bjorge, L. (Line), Salvesen, H. B. (Helga B.), van Altena, A. M. (Anne M.), Aben, K. K. (Katja K. H.), Kiemeney, L. A. (Lambertus A.), Massuger, L. F. (Leon F. A. G.), Pejovic, T. (Tanja), Bean, Y. (Yukie), Brooks-Wilson, A. (Angela), Kelemen, L. E. (Linda E.), Cook, L. S. (Linda S.), Le, N. D. (Nhu D.), Grski, B. (Bohdan), Gronwald, J. (Jacek), Menkiszak, J. (Janusz), Hogdall, C. K. (Claus K.), Lundvall, L. (Lene), Nedergaard, L. (Lotte), Engelholm, S. A. (Svend Aage), Dicks, E. (Ed), Tyrer, J. (Jonathan), Campbell, I. (Ian), McNeish, I. (Iain), Paul, J. (James), Siddiqui, N. (Nadeem), Glasspool, R. (Rosalind), Whittemore, A. S. (Alice S.), Rothstein, J. H. (Joseph H.), McGuire, V. (Valerie), Sieh, W. (Weiva), Cai, H. (Hui), Shu, X.-O. (Xiao-Ou), Teten, R. T. (Rachel T.), Sutphen, R. (Rebecca), McLaughlin, J. R. (John R.), Narod, S. A. (Steven A.), Phelan, C. M. (Catherine M.), Monteiro, A. N. (Alvaro N.), Fenstermacher, D. (David), Lin, H.-Y. (Hui-Yi), Permuth, J. B. (Jennifer B.), Sellers, T. A. (Thomas A.), Chen, Y. A. (Y. Ann), Tsai, Y.-Y. (Ya-Yu), Chen, Z. (Zhihua), Gentry-Maharaj, A. (Aleksandra), Gayther, S. A. (Simon A.), Ramus, S. J. (Susan J.), Menon, U. (Usha), Wu, A. H. (Anna H.), Pearce, C. L. (Celeste L.), Van den Berg, D. (David), Pike, M. C. (Malcolm C.), Dansonka-Mieszkowska, A. (Agnieszka), Plisiecka-Halasa, J. (Joanna), Moes-Sosnowska, J. (Joanna), Kupryjanczyk, J. (Jolanta), Pharoah, P. D. (Paul D. P.), Song, H. (Honglin), Winship, I. (Ingrid), Chenevix-Trench, G. (Georgia), Giles, G. G. (Graham G.), Tavtigian, S. V. (Sean V.), Easton, D. F. (Doug F.), Milne, R. L. (Roger L.), Southey, M. C. (Melissa C.), Goldgar, D. E. (David E.), Winqvist, R. (Robert), Pylkäs, K. (Katri), Couch, F. (Fergus), Tischkowitz, M. (Marc), Foulkes, W. D. (William D.), Dennis, J. (Joe), Michailidou, K. (Kyriaki), van Rensburg, E. J. (Elizabeth J.), Heikkinen, T. (Tuomas), Nevanlinna, H. (Heli), Hopper, J. L. (John L.), Doerk, T. (Thilo), Claes, K. B. (Kathleen B. M.), Reis-Filho, J. (Jorge), Teo, Z. L. (Zhi Ling), Radice, P. (Paolo), Catucci, I. (Irene), Peterlongo, P. (Paolo), Tsimiklis, H. (Helen), Odefrey, F. A. (Fabrice A.), Dowty, J. G. (James G.), Schmidt, M. K. (Marjanka K.), Broeks, A. (Annegien), Hogervorst, F. B. (Frans B.), Verhoef, S. (Senno), Carpenter, J. (Jane), Clarke, C. (Christine), Scott, R. J. (Rodney J.), Fasching, P. A. (Peter A.), Haeberle, L. (Lothar), Ekici, A. B. (Arif B.), Beckmann, M. W. (Matthias W.), Peto, J. (Julian), dos-Santos-Silva, I. (Isabel), Fletcher, O. (Olivia), Johnson, N. (Nichola), Bolla, M. K. (Manjeet K.), Sawyer, E. J. (Elinor J.), Tomlinson, I. (Ian), Kerin, M. J. (Michael J.), Miller, N. (Nicola), Marme, F. (Federik), Burwinkel, B. (Barbara), Yang, R. (Rongxi), Guenel, P. (Pascal), . (), Menegaux, F. (Florence), Sanchez, M. (Marie), Bojesen, S. (Stig), Nielsen, S. F. (Sune F.), Flyger, H. (Henrik), Benitez, J. (Javier), Pilar Zamora, M. (M.), Arias Perez, J. I. (Jose Ignacio), Menendez, P. (Primitiva), Anton-Culver, H. (Hoda), Neuhausen, S. (Susan), Ziogas, A. (Argyrios), Clarke, C. A. (Christina A.), Brenner, H. (Hermann), Arndt, V. (Volker), Stegmaier, C. (Christa), Brauch, H. (Hiltrud), Bruening, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Muranen, T. A. (Taru A.), Aittomaki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia V.), Antonenkova, N. N. (Natalia N.), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V.-M. (Veli-Matti), Hartikainen, J. M. (Jaana M.), Spurdle, A. B. (Amanda B.), Wauters, E. (Els), Smeets, D. (Dominiek), Beuselinck, B. (Benoit), Floris, G. (Giuseppe), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Olson, J. E. (Janet E.), Vachon, C. (Celine), Pankratz, V. S. (Vernon S.), McLean, C. (Catriona), Haiman, C. A. (Christopher A.), Henderson, B. E. (Brian E.), Schumacher, F. (Fredrick), Le Marchand, L. (Loic), Kristensen, V. (Vessela), Alnaes, G. G. (Grethe Grenaker), Zheng, W. (Wei), Hunter, D. J. (David J.), Lindstrom, S. (Sara), Hankinson, S. E. (Susan E.), Kraft, P. (Peter), Andrulis, I. (Irene), Knight, J. A. (Julia A.), Glendon, G. (Gord), Mulligan, A. M. (Anna Marie), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Kauppila, S. (Saila), Devilee, P. (Peter), Tollenaar, R. A. (Robert A. E. M.), Seynaeve, C. (Caroline), Hollestelle, A. (Antoinette), Garcia-Closas, M. (Montserrat), Figueroa, J. (Jonine), Chanock, S. J. (Stephen J.), Lissowska, J. (Jolanta), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Eccles, D. M. (Diana M.), Rafiq, S. (Sajjad), Tapper, W. J. (William J.), Gerty, S. M. (Sue M.), Hooning, M. J. (Maartje J.), Martens, J. W. (John W. M.), Collee, J. M. (J. Margriet), Tilanus-Linthorst, M. (Madeleine), Hall, P. (Per), Li, J. (Jingmei), Brand, J. S. (Judith S.), Humphreys, K. (Keith), Cox, A. (Angela), Reed, M. W. (Malcolm W. R.), Luccarini, C. (Craig), Baynes, C. (Caroline), Dunning, A. M. (Alison M.), Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H. U. (Hans Ulrich), Ruediger, T. (Thomas), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Slager, S. (Susan), Toland, A. E. (Amanda E.), Ambrosone, C. B. (Christine B.), Yannoukakos, D. (Drakoulis), Swerdlow, A. (Anthony), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Gonzalez-Neira, A. (Anna), Pita, G. (Guillermo), Rosario Alonso, M. (M.), Alvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D. C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Simard, J. (Jacques), Dumont, M. (Martine), Soucy, P. (Penny), Eeles, R. (Rosalind), Muir, K. (Kenneth), Wiklund, F. (Fredrik), Gronberg, H. (Henrik), Schleutker, J. (Johanna), Nordestgaard, B. G. (Borge G.), Weischer, M. (Maren), Travis, R. C. (Ruth C.), Neal, D. (David), Donovan, J. L. (Jenny L.), Hamdy, F. C. (Freddie C.), Khaw, K.-T. (Kay-Tee), Stanford, J. L. (Janet L.), Blot, W. J. (William J.), Thibodeau, S. (Stephen), Schaid, D. J. (Daniel J.), Kelley, J. L. (Joseph L.), Maier, C. (Christiane), Kibel, A. S. (Adam S.), Cybulski, C. (Cezary), Cannon-Albright, L. (Lisa), Butterbach, K. (Katja), Park, J. (Jong), Kaneva, R. (Radka), Batra, J. (Jyotsna), Teixeira, M. R. (Manuel R.), Kote-Jarai, Z. (Zsofia), Al Olama, A. A. (Ali Amin), Benlloch, S. (Sara), Renner, S. P. (Stefan P.), Hartmann, A. (Arndt), Hein, A. (Alexander), Ruebner, M. (Matthias), Lambrechts, D. (Diether), Van Nieuwenhuysen, E. (Els), Vergote, I. (Ignace), Lambretchs, S. (Sandrina), Doherty, J. A. (Jennifer A.), Rossing, M. A. (Mary Anne), Nickels, S. (Stefan), Eilber, U. (Ursula), Wang-Gohrke, S. (Shan), Odunsi, K. (Kunle), Sucheston-Campbell, L. E. (Lara E.), Friel, G. (Grace), Lurie, G. (Galina), Killeen, J. L. (Jeffrey L.), Wilkens, L. R. (Lynne R.), Goodman, M. T. (Marc T.), Runnebaum, I. (Ingo), Hillemanns, P. A. (Peter A.), Pelttari, L. M. (Liisa M.), Butzow, R. (Ralf), Modugno, F. (Francesmary), Edwards, R. P. (Robert P.), Ness, R. B. (Roberta B.), Moysich, K. B. (Kirsten B.), du Bois, A. (Andreas), Heitz, F. (Florian), Harter, P. (Philipp), Kommoss, S. (Stefan), Karlan, B. Y. (Beth Y.), Walsh, C. (Christine), Lester, J. (Jenny), Jensen, A. (Allan), Kjaer, S. K. (Susanne Kruger), Hogdall, E. (Estrid), Peissel, B. (Bernard), Bonanni, B. (Bernardo), Bernard, L. (Loris), Goode, E. L. (Ellen L.), Fridley, B. L. (Brooke L.), Vierkant, R. A. (Robert A.), Cunningham, J. M. (Julie M.), Larson, M. C. (Melissa C.), Fogarty, Z. C. (Zachary C.), Kalli, K. R. (Kimberly R.), Liang, D. (Dong), Lu, K. H. (Karen H.), Hildebrandt, M. A. (Michelle A. T.), Wu, X. (Xifeng), Levine, D. A. (Douglas A.), Dao, F. (Fanny), Bisogna, M. (Maria), Berchuck, A. (Andrew), Iversen, E. S. (Edwin S.), Marks, J. R. (Jeffrey R.), Akushevich, L. (Lucy), Cramer, D. W. (Daniel W.), Schildkraut, J. (Joellen), Terry, K. L. (Kathryn L.), Poole, E. M. (Elizabeth M.), Stampfer, M. (Meir), Tworoger, S. S. (Shelley S.), Bandera, E. V. (Elisa V.), Orlow, I. (Irene), Olson, S. H. (Sara H.), Bjorge, L. (Line), Salvesen, H. B. (Helga B.), van Altena, A. M. (Anne M.), Aben, K. K. (Katja K. H.), Kiemeney, L. A. (Lambertus A.), Massuger, L. F. (Leon F. A. G.), Pejovic, T. (Tanja), Bean, Y. (Yukie), Brooks-Wilson, A. (Angela), Kelemen, L. E. (Linda E.), Cook, L. S. (Linda S.), Le, N. D. (Nhu D.), Grski, B. (Bohdan), Gronwald, J. (Jacek), Menkiszak, J. (Janusz), Hogdall, C. K. (Claus K.), Lundvall, L. (Lene), Nedergaard, L. (Lotte), Engelholm, S. A. (Svend Aage), Dicks, E. (Ed), Tyrer, J. (Jonathan), Campbell, I. (Ian), McNeish, I. (Iain), Paul, J. (James), Siddiqui, N. (Nadeem), Glasspool, R. (Rosalind), Whittemore, A. S. (Alice S.), Rothstein, J. H. (Joseph H.), McGuire, V. (Valerie), Sieh, W. (Weiva), Cai, H. (Hui), Shu, X.-O. (Xiao-Ou), Teten, R. T. (Rachel T.), Sutphen, R. (Rebecca), McLaughlin, J. R. (John R.), Narod, S. A. (Steven A.), Phelan, C. M. (Catherine M.), Monteiro, A. N. (Alvaro N.), Fenstermacher, D. (David), Lin, H.-Y. (Hui-Yi), Permuth, J. B. (Jennifer B.), Sellers, T. A. (Thomas A.), Chen, Y. A. (Y. Ann), Tsai, Y.-Y. (Ya-Yu), Chen, Z. (Zhihua), Gentry-Maharaj, A. (Aleksandra), Gayther, S. A. (Simon A.), Ramus, S. J. (Susan J.), Menon, U. (Usha), Wu, A. H. (Anna H.), Pearce, C. L. (Celeste L.), Van den Berg, D. (David), Pike, M. C. (Malcolm C.), Dansonka-Mieszkowska, A. (Agnieszka), Plisiecka-Halasa, J. (Joanna), Moes-Sosnowska, J. (Joanna), Kupryjanczyk, J. (Jolanta), Pharoah, P. D. (Paul D. P.), Song, H. (Honglin), Winship, I. (Ingrid), Chenevix-Trench, G. (Georgia), Giles, G. G. (Graham G.), Tavtigian, S. V. (Sean V.), Easton, D. F. (Doug F.), and Milne, R. L. (Roger L.)
Abstract: Background: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. Methods: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. Results: For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p = 7.1 × 10⁻⁵), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p = 6.9 × 10⁻⁸) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p = 0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p ≤ 0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p = 0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p = 0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. Conclusions: This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.
Published: 2016

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