Author: "González-Neira, Anna" / Publisher: springer science and business media llc - Searchworks@Jio Institute Digital Library Search Results

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31 results on '"González-Neira, Anna"'

1. FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

Author: Figlioli, Gisella, Billaud, Amandine, Ahearn, Thomas U, Antonenkova, Natalia N, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blok, Marinus J, Bogdanova, Natalia V, Bonanni, Bernardo, Burwinkel, Barbara, Camp, Nicola J, Campbell, Archie, Castelao, Jose E, Cessna, Melissa H, Chanock, Stephen J, NBCS Collaborators, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A, Figueroa, Jonine D, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, González-Neira, Anna, Grassmann, Felix, Guénel, Pascal, Gündert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harrington, Patricia A, He, Wei, Hillemanns, Peter, Hollestelle, Antoinette, Hooning, Maartje J, Hoppe, Reiner, Howell, Anthony, Humphreys, Keith, KConFab Investigators, Jager, Agnes, Jakubowska, Anna, Khusnutdinova, Elza K, Ko, Yon-Dschun, Kristensen, Vessela N, Lindblom, Annika, Lissowska, Jolanta, Lubiński, Jan, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Mavroudis, Dimitrios, Newman, William G, Obi, Nadia, Panayiotidis, Mihalis I, Rashid, Muhammad U, Rhenius, Valerie, Rookus, Matti A, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Shah, Mitul, Sironen, Reijo, Southey, Melissa C, Suvanto, Maija, Tollenaar, Rob AEM, Tomlinson, Ian, Truong, Thérèse, Van Der Kolk, Lizet E, Van Veen, Elke M, Wappenschmidt, Barbara, Yang, Xiaohong R, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Easton, Douglas F, Lush, Michael, Michailidou, Kyriaki, Pharoah, Paul DP, Wang, Qin, Adank, Muriel A, Schmidt, Marjanka K, Andrulis, Irene L, Chang-Claude, Jenny, Nevanlinna, Heli, Chenevix-Trench, Georgia, Evans, D Gareth, Milne, Roger L, Radice, Paolo, Peterlongo, Paolo, Figlioli, Gisella [0000-0002-0740-1363], Becher, Heiko [0000-0002-8808-6667], Behrens, Sabine [0000-0002-9714-104X], Blok, Marinus J [0000-0002-7935-5933], Bonanni, Bernardo [0000-0003-3589-2128], Chanock, Stephen J [0000-0002-2324-3393], Devilee, Peter [0000-0002-8023-2009], Dörk, Thilo [0000-0002-9458-0282], Fasching, Peter A [0000-0003-4885-8471], Grassmann, Felix [0000-0003-1390-7528], Hollestelle, Antoinette [0000-0003-1166-1966], Jakubowska, Anna [0000-0002-5650-0501], Lissowska, Jolanta [0000-0003-2695-5799], Newman, William G [0000-0002-6382-4678], Panayiotidis, Mihalis I [0000-0002-1450-3552], Rashid, Muhammad U [0000-0002-7684-3122], Saloustros, Emmanouil [0000-0002-0485-0120], Yang, Xiaohong R [0000-0003-4451-8664], Dennis, Joe [0000-0003-4591-1214], Easton, Douglas F [0000-0003-2444-3247], Michailidou, Kyriaki [0000-0001-7065-1237], Pharoah, Paul DP [0000-0001-8494-732X], Schmidt, Marjanka K [0000-0002-2228-429X], Andrulis, Irene L [0000-0002-4226-6435], Nevanlinna, Heli [0000-0002-0916-2976], Milne, Roger L [0000-0001-5764-7268], Radice, Paolo [0000-0001-6298-4111], Peterlongo, Paolo [0000-0001-6951-6855], and Apollo - University of Cambridge Repository
Subjects: DNA Helicases, Humans, Female, Breast Neoplasms, Triple Negative Breast Neoplasms, Genetic Predisposition to Disease, KConFab Investigators, NBCS Collaborators
Abstract: Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry. Sixteen common MVs were tested individually; the remaining rare 673 MVs were tested by burden analyses considering their position and pathogenicity score. We also conducted a meta-analysis of our results and those from published studies. We did not find evidence for association for any of the 16 variants individually tested. The rare MVs were significantly associated with increased risk of ER-negative breast cancer by burden analysis comparing familial cases to controls (OR = 1.48; 95% CI 1.07-2.04; P = 0.017). Higher ORs were found for the subgroup of MVs located in functional domains or predicted to be pathogenic. The meta-analysis indicated that FANCM MVs overall are associated with breast cancer risk (OR = 1.22; 95% CI 1.08-1.38; P = 0.002). Our results support the definition from previous analyses of FANCM as a moderate-risk breast cancer gene and provide evidence that FANCM MVs could be low/moderate risk factors for ER-negative and TNBC subtypes. Further genetic and functional analyses are necessary to clarify better the increased risks due to FANCM MVs.
Published: 2022
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2. Rare germline copy number variants (CNVs) and breast cancer risk

Author: Dennis, Joe, Tyrer, Jonathan, Walker, Logan C, Michailidou, Kyriaki, Dorling, Leila, Bolla, Manjeet K, Wang, Jean, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Freeman, Laura E Beane, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Brenner, Hermann, Castelao, Jose E, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Clarke, Christine L, Kristensen, Vessela N, Sahlberg, Kristine K, Børresen-Dale, Anne-Lise, Gram, Inger Torhild, Engebråten, Olav, Naume, Bjørn, Geisler, Jürgen, Alnæs, Grethe I Grenaker, Collée, J Margriet, Lacey, James, Martinez, Elena, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Dossus, Laure, Eliassen, A Heather, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Giles, Graham G, González-Neira, Anna, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Hall, Per, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L, Howell, Anthony, Clarke, Christine, Carpenter, Jane, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, Dinny, Sachchithananthan, Mythily, Campbell, Ian, De Fazio, Anna, Fox, Stephen, Kirk, Judy, Lindeman, Geoff, Milne, Roger, Southey, Melissa, Spurdle, Amanda, Thorne, Heather, Jager, Agnes, Jakubowska, Anna, John, Esther M, Johnson, Nichola, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Ko, Yon-Dschun, Kosma, Veli-Matti, Koutros, Stella, Kraft, Peter, Kubelka-Sabit, Katerina, Kurian, Allison W, Lacey, James V, Lambrechts, Diether, Larson, Nicole L, Linet, Martha, Ogrodniczak, Alicja, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L, Muranen, Taru A, Murphy, Rachel A, Nevanlinna, Heli, Olson, Janet E, Olsson, Håkan, Park-Simon, Tjoung-Won, Perou, Charles M, Peterlongo, Paolo, Plaseska-Karanfilska, Dijana, Pylkäs, Katri, Rennert, Gad, Saloustros, Emmanouil, Sandler, Dale P, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Shibli, Rana, Smeets, Ann, Soucy, Penny, Southey, Melissa C, Swerdlow, Anthony J, Tamimi, Rulla M, Taylor, Jack A, Teras, Lauren R, Terry, Mary Beth, Tomlinson, Ian, Troester, Melissa A, Truong, Thérèse, Vachon, Celine M, Wendt, Camilla, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R, Zheng, Wei, Ziogas, Argyrios, Simard, Jacques, Dunning, Alison, Pharoah, Paul, Easton, Douglas, Dennis, Joe [0000-0003-4591-1214], Tyrer, Jonathan [0000-0003-3724-4757], Walker, Logan C [0000-0003-0018-3719], Michailidou, Kyriaki [0000-0001-7065-1237], Wang, Jean [0000-0002-9139-0627], Andrulis, Irene L [0000-0002-4226-6435], Arndt, Volker [0000-0001-9320-8684], Aronson, Kristan J [0000-0002-7865-7243], Behrens, Sabine [0000-0002-9714-104X], Kristensen, Vessela N [0000-0001-5012-7438], Dörk, Thilo [0000-0002-9458-0282], Dossus, Laure [0000-0003-2716-5748], Figueroa, Jonine [0000-0002-5100-623X], Fritschi, Lin [0000-0002-7692-3560], Giles, Graham G [0000-0003-4946-9099], Hollestelle, Antoinette [0000-0003-1166-1966], Jakubowska, Anna [0000-0002-5650-0501], Johnson, Nichola [0000-0002-8230-5662], Jones, Michael E [0000-0001-7479-3451], Keeman, Renske [0000-0002-5452-9933], Larson, Nicole L [0000-0002-2129-6934], Milne, Roger L [0000-0001-5764-7268], Nevanlinna, Heli [0000-0002-0916-2976], Olson, Janet E [0000-0003-4944-7789], Peterlongo, Paolo [0000-0001-6951-6855], Plaseska-Karanfilska, Dijana [0000-0001-8877-2416], Pylkäs, Katri [0000-0002-2449-0521], Rennert, Gad [0000-0002-8512-068X], Tomlinson, Ian [0000-0003-3037-1470], Truong, Thérèse [0000-0002-2943-6786], Vachon, Celine M [0000-0002-1962-9322], Wolk, Alicja [0000-0001-7387-6845], Ziogas, Argyrios [0000-0003-4529-3727], Simard, Jacques [0000-0001-6906-3390], Dunning, Alison [0000-0001-6651-7166], Pharoah, Paul [0000-0001-8494-732X], Easton, Douglas [0000-0003-2444-3247], Apollo - University of Cambridge Repository, Wilson, Leila [0000-0003-1214-8080], Clinical Genetics, Medical Oncology, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, and Clinicum
Subjects: endocrine system diseases, 45/43, Medicine (miscellaneous), Genome-wide association studies, Basic medicine, Breast cancer, Other medical sciences, Runx2, Risk Factors, Biology (General), skin and connective tissue diseases, 0303 health sciences, 030305 genetics & heredity, article, 3. Good health, Female, General Agricultural and Biological Sciences, Medical Genetics, Mutations, DNA Copy Number Variations, Locus, QH301-705.5, kConFab/AOCS Investigators, ABCTB Investigators, 631/208/205/2138, Breast Neoplasms, Breast Neoplasms/genetics, General Biochemistry, Genetics and Molecular Biology, NBCS Collaborators, Association, Deletion, 03 medical and health sciences, SDG 3 - Good Health and Well-being, mental disorders, Humans, 030304 developmental biology, Medicinsk genetik, Cancer och onkologi, Genome, Human, Health sciences, 631/67/1347, CTS Consortium, Germ Cells, Genes, Clinical medicine, Cancer and Oncology, Case-Control Studies, 3111 Biomedicine, Structural variation, Brca1, Genome-Wide Association Study
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, Dennis et al. investigate potential breast cancer associations with rare germline copy number variants (CNVs) by conducting a genome-wide analysis in a large breast cancer case-control dataset. The authors detected associations with exonic deletions in established breast cancer susceptibility genes and suggestive associations for a number of non-coding CNVs.
Published: 2021
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3. Mendelian randomisation study of smoking exposure in relation to breast cancer risk

Author: Park, Hanla A, Neumeyer, Sonja, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Baten, Adinda, Beane Freeman, Laura E, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Brauch, Hiltrud, Brenner, Hermann, Brucker, Sara Y, Burwinkel, Barbara, Campa, Daniele, Canzian, Federico, Castelao, Jose E, Chanock, Stephen J, Chenevix-Trench, Georgia, Clarke, Christine L, NBCS Collaborators, Conroy, Don M, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dwek, Miriam, Eccles, Diana M, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Flyger, Henrik, Fritschi, Lin, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, Giles, Graham G, Glendon, Gord, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Grip, Mervi, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Han, Sileny, Harkness, Elaine F, Hart, Steven N, He, Wei, Heemskerk-Gerritsen, Bernadette AM, Hopper, John L, Hunter, David J, ABCTB Investigators, kConFab Investigators, Jager, Agnes, Jakubowska, Anna, John, Esther M, Jung, Audrey, Kaaks, Rudolf, Kapoor, Pooja Middha, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Koppert, Linetta B, Koutros, Stella, Kristensen, Vessela N, Kurian, Allison W, Lacey, James, Lambrechts, Diether, Le Marchand, Loic, Lo, Wing-Yee, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, Mavroudis, Dimitrios, Meindl, Alfons, Menon, Usha, Milne, Roger L, Muranen, Taru A, Nevanlinna, Heli, Newman, William G, Nordestgaard, Børge G, Offit, Kenneth, Olshan, Andrew F, Olsson, Håkan, Park-Simon, Tjoung-Won, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Radice, Paolo, Rennert, Gad, Rennert, Hedy S, Romero, Atocha, Saloustros, Emmanouil, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Schoemaker, Minouk J, Schwentner, Lukas, Scott, Christopher, Shah, Mitul, Shu, Xiao-Ou, Simard, Jacques, Smeets, Ann, Southey, Melissa C, Spinelli, John J, Stevens, Victoria, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Terry, Mary Beth, Tomlinson, Ian, Troester, Melissa A, Truong, Thérèse, Vachon, Celine M, van Veen, Elke M, Vijai, Joseph, Wang, Sophia, Wendt, Camilla, Winqvist, Robert, Wolk, Alicja, Ziogas, Argyrios, Dunning, Alison M, Pharoah, Paul DP, Easton, Douglas F, Zheng, Wei, Kraft, Peter, and Chang-Claude, 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. CONCLUSION: 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

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

Author: Zhang, Haoyu, Ahearn, Thomas U, Lecarpentier, Julie, Barnes, Daniel, Beesley, Jonathan, Qi, Guanghao, Jiang, Xia, O'Mara, Tracy A, Zhao, Ni, Bolla, Manjeet K, Dunning, Alison M, Dennis, Joe, Wang, Qin, Ful, Zumuruda Abu, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Arun, Banu K, Auer, Paul L, Azzollini, Jacopo, Barrowdale, Daniel, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Ana, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Bondavalli, Davide, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Broeks, Annegien, Brucker, Sara Y, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Byers, Helen, Caldés, Trinidad, Caligo, Maria A, Calvello, Mariarosaria, Campa, Daniele, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Christiaens, Melissa, Christiansen, Hans, Chung, Wendy K, Claes, Kathleen BM, Clarke, Christine L, Cornelissen, Sten, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Diez, Orland, Domchek, Susan M, Dörk, Thilo, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Foretova, Lenka, Fostira, Florentia, Friedman, Eitan, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M, Garber, Judy, García-Sáenz, José A, Gaudet, Mia M, Gayther, Simon A, Giles, Graham G, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Häberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Hake, Christopher R, Hall, Per, Hamann, Ute, Harkness, Elaine F, Heemskerk-Gerritsen, Bernadette AM, Hillemanns, Peter, Hogervorst, Frans BL, Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Howell, Anthony, Huebner, Hanna, Hulick, Peter J, Imyanitov, Evgeny N, kConFab Investigators, ABCTB Investigators, Isaacs, Claudine, Izatt, Louise, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y, Keeman, Renske, Khan, Sofia, Khusnutdinova, Elza, Kitahara, Cari M, Ko, Yon-Dschun, Konstantopoulou, Irene, Koppert, Linetta B, Koutros, Stella, Kristensen, Vessela N, Laenkholm, Anne-Vibeke, Lambrechts, Diether, Larsson, Susanna C, Laurent-Puig, Pierre, Lazaro, Conxi, Lazarova, Emilija, Lejbkowicz, Flavio, Leslie, Goska, Lesueur, Fabienne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loud, Jennifer T, Lubinski, Jan, Lukomska, Alicja, MacInnis, Robert J, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matricardi, Laura, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Mingazheva, Elvira, Montagna, Marco, Mulligan, Anna Marie, Mulot, Claire, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Neven, Patrick, Newman, William G, Nielsen, Finn C, Nikitina-Zake, Liene, Nodora, Jesse, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olsson, Håkan, Orr, Nick, Papi, Laura, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T, Peissel, Bernard, Peixoto, Ana, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Piedmonte, Marion, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Prokofyeva, Darya, Rack, Brigitte, Radice, Paolo, Ramus, Susan J, Rantala, Johanna, Rashid, Muhammad U, Rennert, Gad, Rennert, Hedy S, Risch, Harvey A, Romero, Atocha, Rookus, Matti A, Rübner, Matthias, Rüdiger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P, Sawyer, Elinor J, Scheuner, Maren T, Schmutzler, Rita K, Schneeweiss, Andreas, Schoemaker, Minouk J, Schöttker, Ben, Schürmann, Peter, Senter, Leigha, Sharma, Priyanka, Sherman, Mark E, Shu, Xiao-Ou, Singer, Christian F, Smichkoska, Snezhana, Soucy, Penny, Southey, Melissa C, Spinelli, John J, Stone, Jennifer, Stoppa-Lyonnet, Dominique, EMBRACE Study, GEMO Study Collaborators, Swerdlow, Anthony J, Szabo, Csilla I, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Teixeira, Manuel R, Terry, MaryBeth, Thomassen, Mads, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tollenaar, Rob AEM, Tomlinson, Ian, Torres, Diana, Troester, Melissa A, Truong, Thérèse, Tung, Nadine, Untch, Michael, Vachon, Celine M, van den Ouweland, Ans MW, van der Kolk, Lizet E, van Veen, Elke M, vanRensburg, Elizabeth J, Vega, Ana, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R, Yannoukakos, Drakoulis, Zheng, Wei, Zorn, Kristin K, Milne, Roger L, Kraft, Peter, Simard, Jacques, Pharoah, Paul DP, Michailidou, Kyriaki, Antoniou, Antonis C, Schmidt, Marjanka K, Chenevix-Trench, Georgia, Easton, Douglas F, Chatterjee, Nilanjan, García-Closas, Montserrat, Barnes, Daniel [0000-0002-3781-7570], O'Mara, Tracy A [0000-0002-5436-3232], Dunning, Alison M [0000-0001-6651-7166], Dennis, Joe [0000-0003-4591-1214], Andrulis, Irene L [0000-0002-4226-6435], Arndt, Volker [0000-0001-9320-8684], Azzollini, Jacopo [0000-0002-9364-9778], Bojesen, Stig E [0000-0002-4061-4133], Bonanni, Bernardo [0000-0003-3589-2128], Brauch, Hiltrud [0000-0001-7531-2736], Caldés, Trinidad [0000-0002-1038-5392], Calvello, Mariarosaria [0000-0003-2113-8503], Chanock, Stephen J [0000-0002-2324-3393], Claes, Kathleen BM [0000-0003-0841-7372], Devilee, Peter [0000-0002-8023-2009], Dörk, Thilo [0000-0002-9458-0282], Dwek, Miriam [0000-0001-7184-2932], Ekici, Arif B [0000-0001-6099-7066], Fasching, Peter A [0000-0003-4885-8471], García-Sáenz, José A [0000-0001-6880-0301], Gayther, Simon A [0000-0001-7937-5443], Giles, Graham G [0000-0003-4946-9099], Greene, Mark H [0000-0003-1852-9239], Guénel, Pascal [0000-0002-8359-518X], Harkness, Elaine F [0000-0001-6625-7739], Heemskerk-Gerritsen, Bernadette AM [0000-0002-9724-6693], Hollestelle, Antoinette [0000-0003-1166-1966], Huebner, Hanna [0000-0001-6889-1493], Hulick, Peter J [0000-0001-8397-4078], Jakimovska, Milena [0000-0002-1506-0669], Jakubowska, Anna [0000-0002-5650-0501], James, Paul [0000-0002-4361-4657], Jones, Michael E [0000-0001-7479-3451], Kapoor, Pooja Middha [0000-0001-5503-8215], Keeman, Renske [0000-0002-5452-9933], Konstantopoulou, Irene [0000-0002-0470-0309], Larsson, Susanna C [0000-0003-0118-0341], Laurent-Puig, Pierre [0000-0001-8475-5459], Leslie, Goska [0000-0001-5756-6222], Lesueur, Fabienne [0000-0001-7404-4549], Lissowska, Jolanta [0000-0003-2695-5799], Matricardi, Laura [0000-0002-0241-1810], McLean, Catriona [0000-0002-0302-5727], Menon, Usha [0000-0003-3708-1732], Miller, Austin [0000-0001-9739-8462], Muranen, Taru A [0000-0002-5895-1808], Nathanson, Katherine L [0000-0002-6740-0901], Nevanlinna, Heli [0000-0002-0916-2976], Newman, William G [0000-0002-6382-4678], Olopade, Olufunmilayo I [0000-0002-9936-1599], Orr, Nick [0000-0003-2866-942X], Parsons, Michael T [0000-0003-3242-8477], Peshkin, Beth [0000-0002-2997-4701], Peterlongo, Paolo [0000-0001-6951-6855], Peto, Julian [0000-0002-1685-8912], Plaseska-Karanfilska, Dijana [0000-0001-8877-2416], Radice, Paolo [0000-0001-6298-4111], Rennert, Gad [0000-0002-8512-068X], Romero, Atocha [0000-0002-1634-7397], Saloustros, Emmanouil [0000-0002-0485-0120], Stone, Jennifer [0000-0001-5077-0124], Teixeira, Manuel R [0000-0002-4896-5982], Toland, Amanda E [0000-0002-0271-1792], Tomlinson, Ian [0000-0003-3037-1470], van Veen, Elke M [0000-0001-8618-2332], vanRensburg, Elizabeth J [0000-0003-2077-230X], Weitzel, Jeffrey N [0000-0001-6714-092X], Winqvist, Robert [0000-0003-0932-9104], Wolk, Alicja [0000-0001-7387-6845], Yannoukakos, Drakoulis [0000-0001-7509-3510], Zheng, Wei [0000-0003-1226-070X], Milne, Roger L [0000-0001-5764-7268], Kraft, Peter [0000-0002-4472-8103], Simard, Jacques [0000-0001-6906-3390], Pharoah, Paul DP [0000-0001-8494-732X], Michailidou, Kyriaki [0000-0001-7065-1237], Schmidt, Marjanka K [0000-0002-2228-429X], Easton, Douglas F [0000-0003-2444-3247], Chatterjee, Nilanjan [0000-0002-9060-008X], García-Closas, Montserrat [0000-0003-1033-2650], and Apollo - University of Cambridge Repository
Subjects: BRCA1 Protein, Case-Control Studies, Mutation, Humans, Breast Neoplasms, Female, Genetic Predisposition to Disease, Triple Negative Breast Neoplasms, Linkage Disequilibrium, Genome-Wide Association Study
Abstract: Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1-3. 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
Published: 2020

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

Author: Escala-Garcia, Maria, Guo, Qi, Dörk, Thilo, Canisius, Sander, Keeman, Renske, Dennis, Joe, Beesley, Jonathan, Lecarpentier, Julie, Bolla, Manjeet K, Wang, Qin, Abraham, Jean, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Auer, Paul L, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Boeckx, Bram, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brentnall, Adam, Brinton, Louise, Broberg, Per, Brock, Ian W, Brucker, Sara Y, Burwinkel, Barbara, Caldas, Carlos, Caldés, Trinidad, Campa, Daniele, Canzian, Federico, Carracedo, Angel, Carter, Brian D, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Cheng, Ting-Yuan David, Chin, Suet-Feung, Clarke, Christine L, NBCS Collaborators, Cordina-Duverger, Emilie, Couch, Fergus J, Cox, David G, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dunn, Janet A, Dunning, Alison M, Durcan, Lorraine, Dwek, Miriam, Earl, Helena M, Ekici, Arif B, Eliassen, A Heather, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Evans, D Gareth, Figueroa, Jonine, Flesch-Janys, Dieter, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Galle, Eva, Gapstur, Susan M, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, George, Angela, Georgoulias, Vassilios, Giles, Graham G, Glendon, Gord, Goldgar, David E, González-Neira, Anna, Alnæs, Grethe I Grenaker, Grip, Mervi, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hankinson, Susan, Harkness, Elaine F, Harrington, Patricia A, Hart, Steven N, Hartikainen, Jaana M, Hein, Alexander, Hillemanns, Peter, Hiller, Louise, Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Howell, Anthony, Huang, Guanmengqian, Humphreys, Keith, Hunter, David J, Janni, Wolfgang, John, Esther M, Jones, Michael E, Jukkola-Vuorinen, Arja, Jung, Audrey, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kerin, Michael J, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I, Kitahara, Cari M, Knight, Julia A, Ko, Yon-Dschun, Koppert, Linetta B, Kosma, Veli-Matti, Kraft, Peter, Kristensen, Vessela N, Krüger, Ute, Kühl, Tabea, Lambrechts, Diether, Le Marchand, Loic, Lee, Eunjung, Lejbkowicz, Flavio, Li, Lian, Lindblom, Annika, Lindström, Sara, Linet, Martha, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Lubiński, Jan, Lux, Michael P, MacInnis, Robert J, Maierthaler, Melanie, Maishman, Tom, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Mavroudis, Dimitrios, McLean, Catriona, Meindl, Alfons, Middha, Pooja, Miller, Nicola, Milne, Roger L, Moreno, Fernando, Mulligan, Anna Marie, Mulot, Claire, Nassir, Rami, Neuhausen, Susan L, Newman, William T, Nielsen, Sune F, Nordestgaard, Børge G, Norman, Aaron, Olsson, Håkan, Orr, Nick, Pankratz, V Shane, Park-Simon, Tjoung-Won, Perez, Jose IA, Pérez-Barrios, Clara, Peterlongo, Paolo, Petridis, Christos, Pinchev, Mila, Prajzendanc, Karoliona, Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Ramachandran, Dhanya, Rennert, Gadi, Rennert, Hedy S, Rhenius, Valerie, Romero, Atocha, Roylance, Rebecca, Saloustros, Emmanouil, Sawyer, Elinor J, Schmidt, Daniel F, Schmutzler, Rita K, Schneeweiss, Andreas, Schoemaker, Minouk J, Schumacher, Fredrick, Schwentner, Lukas, Scott, Rodney J, Scott, Christopher, Seynaeve, Caroline, Shah, Mitul, Simard, Jacques, Smeets, Ann, Sohn, Christof, Southey, Melissa C, Swerdlow, Anthony J, Talhouk, Aline, Tamimi, Rulla M, Tapper, William J, Teixeira, Manuel R, Tengström, Maria, Terry, Mary Beth, Thöne, Kathrin, Tollenaar, Rob AEM, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Turman, Constance, Turnbull, Clare, Ulmer, Hans-Ulrich, Untch, Michael, Vachon, Celine, van Asperen, Christi J, van den Ouweland, Ans MW, van Veen, Elke M, Wendt, Camilla, Whittemore, Alice S, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R, Zhang, Yan, Easton, Douglas F, Fasching, Peter A, Nevanlinna, Heli, Eccles, Diana M, Pharoah, Paul DP, Schmidt, Marjanka K, Dennis, Joe [0000-0003-4591-1214], Wang, Jean [0000-0002-9139-0627], Abraham, Jean [0000-0003-0688-4807], Caldas, Carlos [0000-0003-3547-1489], Chin, Suet-Feung [0000-0001-5697-1082], Dunning, Alison [0000-0001-6651-7166], Earl, Helena [0000-0003-1549-8094], Rhenius, Valerie [0000-0003-4215-3235], Easton, Douglas [0000-0003-2444-3247], Pharoah, Paul [0000-0001-8494-732X], and Apollo - University of Cambridge Repository
Subjects: Receptors, Estrogen, Genetic Variation, Humans, Bayes Theorem, Breast Neoplasms, Female, Prognosis, Chromosomes, Human, Pair 7, White People, Genome-Wide Association Study, Proportional Hazards Models
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
Published: 2019

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

Author: Escala-Garcia, Maria, primary, Abraham, Jean, additional, Andrulis, Irene L., additional, Anton-Culver, Hoda, additional, Arndt, Volker, additional, Ashworth, Alan, additional, Auer, Paul L., additional, Auvinen, Päivi, additional, Beckmann, Matthias W., additional, Beesley, Jonathan, additional, Behrens, Sabine, additional, Benitez, Javier, additional, Bermisheva, Marina, additional, Blomqvist, Carl, additional, Blot, William, additional, Bogdanova, Natalia V., additional, Bojesen, Stig E., additional, Bolla, Manjeet K., additional, Børresen-Dale, Anne-Lise, additional, Brauch, Hiltrud, additional, Brenner, Hermann, additional, Brucker, Sara Y., additional, Burwinkel, Barbara, additional, Caldas, Carlos, additional, Canzian, Federico, additional, Chang-Claude, Jenny, additional, Chanock, Stephen J., additional, Chin, Suet-Feung, additional, Clarke, Christine L., additional, Couch, Fergus J., additional, Cox, Angela, additional, Cross, Simon S., additional, Czene, Kamila, additional, Daly, Mary B., additional, Dennis, Joe, additional, Devilee, Peter, additional, Dunn, Janet A., additional, Dunning, Alison M., additional, Dwek, Miriam, additional, Earl, Helena M., additional, Eccles, Diana M., additional, Eliassen, A. Heather, additional, Ellberg, Carolina, additional, Evans, D. Gareth, additional, Fasching, Peter A., additional, Figueroa, Jonine, additional, Flyger, Henrik, additional, Gago-Dominguez, Manuela, additional, Gapstur, Susan M., additional, García-Closas, Montserrat, additional, García-Sáenz, José A., additional, Gaudet, Mia M., additional, George, Angela, additional, Giles, Graham G., additional, Goldgar, David E., additional, González-Neira, Anna, additional, Grip, Mervi, additional, Guénel, Pascal, additional, Guo, Qi, additional, Haiman, Christopher A., additional, Håkansson, Niclas, additional, Hamann, Ute, additional, Harrington, Patricia A., additional, Hiller, Louise, additional, Hooning, Maartje J., additional, Hopper, John L., additional, Howell, Anthony, additional, Huang, Chiun-Sheng, additional, Huang, Guanmengqian, additional, Hunter, David J., additional, Jakubowska, Anna, additional, John, Esther M., additional, Kaaks, Rudolf, additional, Kapoor, Pooja Middha, additional, Keeman, Renske, additional, Kitahara, Cari M., additional, Koppert, Linetta B., additional, Kraft, Peter, additional, Kristensen, Vessela N., additional, Lambrechts, Diether, additional, Le Marchand, Loic, additional, Lejbkowicz, Flavio, additional, Lindblom, Annika, additional, Lubiński, Jan, additional, Mannermaa, Arto, additional, Manoochehri, Mehdi, additional, Manoukian, Siranoush, additional, Margolin, Sara, additional, Martinez, Maria Elena, additional, Maurer, Tabea, additional, Mavroudis, Dimitrios, additional, Meindl, Alfons, additional, Milne, Roger L., additional, Mulligan, Anna Marie, additional, Neuhausen, Susan L., additional, Nevanlinna, Heli, additional, Newman, William G., additional, Olshan, Andrew F., additional, Olson, Janet E., additional, Olsson, Håkan, additional, Orr, Nick, additional, Peterlongo, Paolo, additional, Petridis, Christos, additional, Prentice, Ross L., additional, Presneau, Nadege, additional, Punie, Kevin, additional, Ramachandran, Dhanya, additional, Rennert, Gad, additional, Romero, Atocha, additional, Sachchithananthan, Mythily, additional, Saloustros, Emmanouil, additional, Sawyer, Elinor J., additional, Schmutzler, Rita K., additional, Schwentner, Lukas, additional, Scott, Christopher, additional, Simard, Jacques, additional, Sohn, Christof, additional, Southey, Melissa C., additional, Swerdlow, Anthony J., additional, Tamimi, Rulla M., additional, Tapper, William J., additional, Teixeira, Manuel R., additional, Terry, Mary Beth, additional, Thorne, Heather, additional, Tollenaar, Rob A. E. M., additional, Tomlinson, Ian, additional, Troester, Melissa A., additional, Truong, Thérèse, additional, Turnbull, Clare, additional, Vachon, Celine M., additional, van der Kolk, Lizet E., additional, Wang, Qin, additional, Winqvist, Robert, additional, Wolk, Alicja, additional, Yang, Xiaohong R., additional, Ziogas, Argyrios, additional, Pharoah, Paul D. P., additional, Hall, Per, additional, Wessels, Lodewyk F. A., additional, Chenevix-Trench, Georgia, additional, Bader, Gary D., additional, Dörk, Thilo, additional, Easton, Douglas F., additional, Canisius, Sander, additional, and Schmidt, Marjanka K., additional
Published: 2020
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7. Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility

Author: Machiela, Mitchell J., primary, Grünewald, Thomas G. P., additional, Surdez, Didier, additional, Reynaud, Stephanie, additional, Mirabeau, Olivier, additional, Karlins, Eric, additional, Rubio, Rebeca Alba, additional, Zaidi, Sakina, additional, Grossetete-Lalami, Sandrine, additional, Ballet, Stelly, additional, Lapouble, Eve, additional, Laurence, Valérie, additional, Michon, Jean, additional, Pierron, Gaelle, additional, Kovar, Heinrich, additional, Gaspar, Nathalie, additional, Kontny, Udo, additional, González-Neira, Anna, additional, Picci, Piero, additional, Alonso, Javier, additional, Patino-Garcia, Ana, additional, Corradini, Nadège, additional, Bérard, Perrine Marec, additional, Freedman, Neal D., additional, Rothman, Nathaniel, additional, Dagnall, Casey L., additional, Burdett, Laurie, additional, Jones, Kristine, additional, Manning, Michelle, additional, Wyatt, Kathleen, additional, Zhou, Weiyin, additional, Yeager, Meredith, additional, Cox, David G., additional, Hoover, Robert N., additional, Khan, Javed, additional, Armstrong, Gregory T., additional, Leisenring, Wendy M., additional, Bhatia, Smita, additional, Robison, Leslie L., additional, Kulozik, Andreas E., additional, Kriebel, Jennifer, additional, Meitinger, Thomas, additional, Metzler, Markus, additional, Hartmann, Wolfgang, additional, Strauch, Konstantin, additional, Kirchner, Thomas, additional, Dirksen, Uta, additional, Morton, Lindsay M., additional, Mirabello, Lisa, additional, Tucker, Margaret A., additional, Tirode, Franck, additional, Chanock, Stephen J., additional, and Delattre, Olivier, additional
Published: 2018
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8. Correction: Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

Author: Ghoussaini, Maya, primary, Edwards, Stacey L., additional, Michailidou, Kyriaki, additional, Nord, Silje, additional, Cowper-Sal·lari, Richard, additional, Desai, Kinjal, additional, Kar, Siddhartha, additional, Hillman, Kristine M., additional, Kaufmann, Susanne, additional, Glubb, Dylan M., additional, Beesley, Jonathan, additional, Dennis, Joe, additional, Bolla, Manjeet K., additional, Wang, Qin, additional, Dicks, Ed, additional, Guo, Qi, additional, Schmidt, Marjanka K., additional, Shah, Mitul, additional, Luben, Robert, additional, Brown, Judith, additional, Czene, Kamila, additional, Darabi, Hatef, additional, Eriksson, Mikael, additional, Klevebring, Daniel, additional, Bojesen, Stig E., additional, Nordestgaard, Børge G., additional, Nielsen, Sune F., additional, Flyger, Henrik, additional, Lambrechts, Diether, additional, Thienpont, Bernard, additional, Neven, Patrick, additional, Wildiers, Hans, additional, Broeks, Annegien, additional, Van’t Veer, Laura J., additional, Rutgers, Emiel J. Th, additional, Couch, Fergus J., additional, Olson, Janet E., additional, Hallberg, Emily, additional, Vachon, Celine, additional, Chang-Claude, Jenny, additional, Rudolph, Anja, additional, Seibold, Petra, additional, Flesch-Janys, Dieter, additional, Peto, Julian, additional, dos-Santos-Silva, Isabel, additional, Gibson, Lorna, additional, Nevanlinna, Heli, additional, Muranen, Taru A., additional, Aittomäki, Kristiina, additional, Blomqvist, Carl, additional, Hall, Per, additional, Li, Jingmei, additional, Liu, Jianjun, additional, Humphreys, Keith, additional, Kang, Daehee, additional, Choi, Ji-Yeob, additional, Park, Sue K., additional, Noh, Dong-Young, additional, Matsuo, Keitaro, additional, Ito, Hidemi, additional, Iwata, Hiroji, additional, Yatabe, Yasushi, additional, Guénel, Pascal, additional, Truong, Thérèse, additional, Menegaux, Florence, additional, Sanchez, Marie, additional, Burwinkel, Barbara, additional, Marme, Frederik, additional, Schneeweiss, Andreas, additional, Sohn, Christof, additional, Wu, Anna H., additional, Tseng, Chiu-chen, additional, Van Den Berg, David, additional, Stram, Daniel O., additional, Benitez, Javier, additional, Pilar Zamora, M, additional, Perez, Jose Ignacio Arias, additional, Menéndez, Primitiva, additional, Shu, Xiao-Ou, additional, Lu, Wei, additional, Gao, Yu-Tang, additional, Cai, Qiuyin, additional, Cox, Angela, additional, Cross, Simon S., additional, Reed, Malcolm W. R., additional, Andrulis, Irene L., additional, Knight, Julia A., additional, Glendon, Gord, additional, Tchatchou, Sandrine, additional, Sawyer, Elinor J., additional, Tomlinson, Ian, additional, Kerin, Michael J., additional, Miller, Nicola, additional, Haiman, Christopher A., additional, Henderson, Brian E., additional, Schumacher, Fredrick, additional, Le Marchand, Loic, additional, Lindblom, Annika, additional, Margolin, Sara, additional, Teo, Soo Hwang, additional, Yip, Cheng Har, additional, Lee, Daphne S. C., additional, Wong, Tien Y., additional, Hooning, Maartje J., additional, Martens, John W. M., additional, Collée, J. Margriet, additional, van Deurzen, Carolien H. M., additional, Hopper, John L., additional, Southey, Melissa C., additional, Tsimiklis, Helen, additional, Kapuscinski, Miroslav K., additional, Shen, Chen-Yang, additional, Wu, Pei-Ei, additional, Yu, Jyh-Cherng, additional, Chen, Shou-Tung, additional, Alnæs, Grethe Grenaker, additional, Borresen-Dale, Anne-Lise, additional, Giles, Graham G., additional, Milne, Roger L., additional, McLean, Catriona, additional, Muir, Kenneth, additional, Lophatananon, Artitaya, additional, Stewart-Brown, Sarah, additional, Siriwanarangsan, Pornthep, additional, Hartman, Mikael, additional, Miao, Hui, additional, Buhari, Shaik Ahmad Bin Syed, additional, Teo, Yik Ying, additional, Fasching, Peter A., additional, Haeberle, Lothar, additional, Ekici, Arif B., additional, Beckmann, Matthias W., additional, Brenner, Hermann, additional, Dieffenbach, Aida Karina, additional, Arndt, Volker, additional, Stegmaier, Christa, additional, Swerdlow, Anthony, additional, Ashworth, Alan, additional, Orr, Nick, additional, Schoemaker, Minouk J., additional, García-Closas, Montserrat, additional, Figueroa, Jonine, additional, Chanock, Stephen J., additional, Lissowska, Jolanta, additional, Simard, Jacques, additional, Goldberg, Mark S., additional, Labrèche, France, additional, Dumont, Martine, additional, Winqvist, Robert, additional, Pylkäs, Katri, additional, Jukkola-Vuorinen, Arja, additional, Brauch, Hiltrud, additional, Brüning, Thomas, additional, Koto, Yon-Dschun, additional, Radice, Paolo, additional, Peterlongo, Paolo, additional, Bonanni, Bernardo, additional, Volorio, Sara, additional, Dörk, Thilo, additional, Bogdanova, Natalia V., additional, Helbig, Sonja, additional, Mannermaa, Arto, additional, Kataja, Vesa, additional, Kosma, Veli-Matti, additional, Hartikainen, Jaana M., additional, Devilee, Peter, additional, Tollenaar, Robert A. E. M., additional, Seynaeve, Caroline, additional, Van Asperen, Christi J., additional, Jakubowska, Anna, additional, Lubinski, Jan, additional, Jaworska-Bieniek, Katarzyna, additional, Durda, Katarzyna, additional, Slager, Susan, additional, Toland, Amanda E., additional, Ambrosone, Christine B., additional, Yannoukakos, Drakoulis, additional, Sangrajrang, Suleeporn, additional, Gaborieau, Valerie, additional, Brennan, Paul, additional, McKay, James, additional, Hamann, Ute, additional, Torres, Diana, additional, Zheng, Wei, additional, Long, Jirong, additional, Anton-Culver, Hoda, additional, Neuhausen, Susan L., additional, Luccarini, Craig, additional, Baynes, Caroline, additional, Ahmed, Shahana, additional, Maranian, Mel, additional, Healey, Catherine S., additional, González-Neira, Anna, additional, Pita, Guillermo, additional, Rosario Alonso, M, additional, Álvarez, Nuria, additional, Herrero, Daniel, additional, Tessier, Daniel C., additional, Vincent, Daniel, additional, Bacot, Francois, additional, de Santiago, Ines, additional, Carroll, Jason, additional, Caldas, Carlos, additional, Brown, Melissa A., additional, Lupien, Mathieu, additional, Kristensen, Vessela N., additional, Pharoah, Paul D. P., additional, Chenevix-Trench, Georgia, additional, French, Juliet D., additional, Easton, Douglas F., additional, and Dunning, Alison M., additional
Published: 2018
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9. Exome array analysis identifies ETFB as a novel susceptibility gene for anthracycline-induced cardiotoxicity in cancer patients

Author: Ruiz-Pinto, Sara, primary, Pita, Guillermo, additional, Martín, Miguel, additional, Alonso-Gordoa, Teresa, additional, Barnes, Daniel R., additional, Alonso, María R., additional, Herraez, Belén, additional, García-Miguel, Purificación, additional, Alonso, Javier, additional, Pérez-Martínez, Antonio, additional, Cartón, Antonio J., additional, Gutiérrez-Larraya, Federico, additional, García-Sáenz, José A., additional, Benítez, Javier, additional, Easton, Douglas. F., additional, Patiño-García, Ana, additional, and González-Neira, Anna, additional
Published: 2017
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10. Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

Author: Darabi, Hatef, primary, Beesley, Jonathan, additional, Droit, Arnaud, additional, Kar, Siddhartha, additional, Nord, Silje, additional, Moradi Marjaneh, Mahdi, additional, Soucy, Penny, additional, Michailidou, Kyriaki, additional, Ghoussaini, Maya, additional, Fues Wahl, Hanna, additional, Bolla, Manjeet K., additional, Wang, Qin, additional, Dennis, Joe, additional, Alonso, M. Rosario, additional, Andrulis, Irene L., additional, Anton-Culver, Hoda, additional, Arndt, Volker, additional, Beckmann, Matthias W., additional, Benitez, Javier, additional, Bogdanova, Natalia V., additional, Bojesen, Stig E., additional, Brauch, Hiltrud, additional, Brenner, Hermann, additional, Broeks, Annegien, additional, Brüning, Thomas, additional, Burwinkel, Barbara, additional, Chang-Claude, Jenny, additional, Choi, Ji-Yeob, additional, Conroy, Don M., additional, Couch, Fergus J., additional, Cox, Angela, additional, Cross, Simon S., additional, Czene, Kamila, additional, Devilee, Peter, additional, Dörk, Thilo, additional, Easton, Douglas F., additional, Fasching, Peter A., additional, Figueroa, Jonine, additional, Fletcher, Olivia, additional, Flyger, Henrik, additional, Galle, Eva, additional, García-Closas, Montserrat, additional, Giles, Graham G., additional, Goldberg, Mark S., additional, González-Neira, Anna, additional, Guénel, Pascal, additional, Haiman, Christopher A., additional, Hallberg, Emily, additional, Hamann, Ute, additional, Hartman, Mikael, additional, Hollestelle, Antoinette, additional, Hopper, John L., additional, Ito, Hidemi, additional, Jakubowska, Anna, additional, Johnson, Nichola, additional, Kang, Daehee, additional, Khan, Sofia, additional, Kosma, Veli-Matti, additional, Kriege, Mieke, additional, Kristensen, Vessela, additional, Lambrechts, Diether, additional, Le Marchand, Loic, additional, Lee, Soo Chin, additional, Lindblom, Annika, additional, Lophatananon, Artitaya, additional, Lubinski, Jan, additional, Mannermaa, Arto, additional, Manoukian, Siranoush, additional, Margolin, Sara, additional, Matsuo, Keitaro, additional, Mayes, Rebecca, additional, McKay, James, additional, Meindl, Alfons, additional, Milne, Roger L., additional, Muir, Kenneth, additional, Neuhausen, Susan L., additional, Nevanlinna, Heli, additional, Olswold, Curtis, additional, Orr, Nick, additional, Peterlongo, Paolo, additional, Pita, Guillermo, additional, Pylkäs, Katri, additional, Rudolph, Anja, additional, Sangrajrang, Suleeporn, additional, Sawyer, Elinor J., additional, Schmidt, Marjanka K., additional, Schmutzler, Rita K., additional, Seynaeve, Caroline, additional, Shah, Mitul, additional, Shen, Chen-Yang, additional, Shu, Xiao-Ou, additional, Southey, Melissa C., additional, Stram, Daniel O., additional, Surowy, Harald, additional, Swerdlow, Anthony, additional, Teo, Soo H., additional, Tessier, Daniel C., additional, Tomlinson, Ian, additional, Torres, Diana, additional, Truong, Thérèse, additional, Vachon, Celine M., additional, Vincent, Daniel, additional, Winqvist, Robert, additional, Wu, Anna H., additional, Wu, Pei-Ei, additional, Yip, Cheng Har, additional, Zheng, Wei, additional, Pharoah, Paul D. P., additional, Hall, Per, additional, Edwards, Stacey L., additional, Simard, Jacques, additional, French, Juliet D., additional, Chenevix-Trench, Georgia, additional, and Dunning, Alison M., additional
Published: 2016
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11. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, Fergus J., primary, Kuchenbaecker, Karoline B., additional, Michailidou, Kyriaki, additional, Mendoza-Fandino, Gustavo A., additional, Nord, Silje, additional, Lilyquist, Janna, additional, Olswold, Curtis, additional, Hallberg, Emily, additional, Agata, Simona, additional, Ahsan, Habibul, additional, Aittomäki, Kristiina, additional, Ambrosone, Christine, additional, Andrulis, Irene L., additional, Anton-Culver, Hoda, additional, Arndt, Volker, additional, Arun, Banu K., additional, Arver, Brita, additional, Barile, Monica, additional, Barkardottir, Rosa B., additional, Barrowdale, Daniel, additional, Beckmann, Lars, additional, Beckmann, Matthias W., additional, Benitez, Javier, additional, Blank, Stephanie V., additional, Blomqvist, Carl, additional, Bogdanova, Natalia V., additional, Bojesen, Stig E., additional, Bolla, Manjeet K., additional, Bonanni, Bernardo, additional, Brauch, Hiltrud, additional, Brenner, Hermann, additional, Burwinkel, Barbara, additional, Buys, Saundra S., additional, Caldes, Trinidad, additional, Caligo, Maria A., additional, Canzian, Federico, additional, Carpenter, Jane, additional, Chang-Claude, Jenny, additional, Chanock, Stephen J., additional, Chung, Wendy K., additional, Claes, Kathleen B. M., additional, Cox, Angela, additional, Cross, Simon S., additional, Cunningham, Julie M., additional, Czene, Kamila, additional, Daly, Mary B., additional, Damiola, Francesca, additional, Darabi, Hatef, additional, de la Hoya, Miguel, additional, Devilee, Peter, additional, Diez, Orland, additional, Ding, Yuan C., additional, Dolcetti, Riccardo, additional, Domchek, Susan M., additional, Dorfling, Cecilia M., additional, dos-Santos-Silva, Isabel, additional, Dumont, Martine, additional, Dunning, Alison M., additional, Eccles, Diana M., additional, Ehrencrona, Hans, additional, Ekici, Arif B., additional, Eliassen, Heather, additional, Ellis, Steve, additional, Fasching, Peter A., additional, Figueroa, Jonine, additional, Flesch-Janys, Dieter, additional, Försti, Asta, additional, Fostira, Florentia, additional, Foulkes, William D., additional, Friebel, Tara, additional, Friedman, Eitan, additional, Frost, Debra, additional, Gabrielson, Marike, additional, Gammon, Marilie D., additional, Ganz, Patricia A., additional, Gapstur, Susan M., additional, Garber, Judy, additional, Gaudet, Mia M., additional, Gayther, Simon A., additional, Gerdes, Anne-Marie, additional, Ghoussaini, Maya, additional, Giles, Graham G., additional, Glendon, Gord, additional, Godwin, Andrew K., additional, Goldberg, Mark S., additional, Goldgar, David E., additional, González-Neira, Anna, additional, Greene, Mark H., additional, Gronwald, Jacek, additional, Guénel, Pascal, additional, Gunter, Marc, additional, Haeberle, Lothar, additional, Haiman, Christopher A., additional, Hamann, Ute, additional, Hansen, Thomas V. O., additional, Hart, Steven, additional, Healey, Sue, additional, Heikkinen, Tuomas, additional, Henderson, Brian E., additional, Herzog, Josef, additional, Hogervorst, Frans B. L., additional, Hollestelle, Antoinette, additional, Hooning, Maartje J., additional, Hoover, Robert N., additional, Hopper, John L., additional, Humphreys, Keith, additional, Hunter, David J., additional, Huzarski, Tomasz, additional, Imyanitov, Evgeny N., additional, Isaacs, Claudine, additional, Jakubowska, Anna, additional, James, Paul, additional, Janavicius, Ramunas, additional, Jensen, Uffe Birk, additional, John, Esther M., additional, Jones, Michael, additional, Kabisch, Maria, additional, Kar, Siddhartha, additional, Karlan, Beth Y., additional, Khan, Sofia, additional, Khaw, Kay-Tee, additional, Kibriya, Muhammad G., additional, Knight, Julia A., additional, Ko, Yon-Dschun, additional, Konstantopoulou, Irene, additional, Kosma, Veli-Matti, additional, Kristensen, Vessela, additional, Kwong, Ava, additional, Laitman, Yael, additional, Lambrechts, Diether, additional, Lazaro, Conxi, additional, Lee, Eunjung, additional, Le Marchand, Loic, additional, Lester, Jenny, additional, Lindblom, Annika, additional, Lindor, Noralane, additional, Lindstrom, Sara, additional, Liu, Jianjun, additional, Long, Jirong, additional, Lubinski, Jan, additional, Mai, Phuong L., additional, Makalic, Enes, additional, Malone, Kathleen E., additional, Mannermaa, Arto, additional, Manoukian, Siranoush, additional, Margolin, Sara, additional, Marme, Frederik, additional, Martens, John W. M., additional, McGuffog, Lesley, additional, Meindl, Alfons, additional, Miller, Austin, additional, Milne, Roger L., additional, Miron, Penelope, additional, Montagna, Marco, additional, Mazoyer, Sylvie, additional, Mulligan, Anna M., additional, Muranen, Taru A., additional, Nathanson, Katherine L., additional, Neuhausen, Susan L., additional, Nevanlinna, Heli, additional, Nordestgaard, Børge G., additional, Nussbaum, Robert L., additional, Offit, Kenneth, additional, Olah, Edith, additional, Olopade, Olufunmilayo I., additional, Olson, Janet E., additional, Osorio, Ana, additional, Park, Sue K., additional, Peeters, Petra H., additional, Peissel, Bernard, additional, Peterlongo, Paolo, additional, Peto, Julian, additional, Phelan, Catherine M., additional, Pilarski, Robert, additional, Poppe, Bruce, additional, Pylkäs, Katri, additional, Radice, Paolo, additional, Rahman, Nazneen, additional, Rantala, Johanna, additional, Rappaport, Christine, additional, Rennert, Gad, additional, Richardson, Andrea, additional, Robson, Mark, additional, Romieu, Isabelle, additional, Rudolph, Anja, additional, Rutgers, Emiel J., additional, Sanchez, Maria-Jose, additional, Santella, Regina M., additional, Sawyer, Elinor J., additional, Schmidt, Daniel F., additional, Schmidt, Marjanka K., additional, Schmutzler, Rita K., additional, Schumacher, Fredrick, additional, Scott, Rodney, additional, Senter, Leigha, additional, Sharma, Priyanka, additional, Simard, Jacques, additional, Singer, Christian F., additional, Sinilnikova, Olga M., additional, Soucy, Penny, additional, Southey, Melissa, additional, Steinemann, Doris, additional, Stenmark-Askmalm, Marie, additional, Stoppa-Lyonnet, Dominique, additional, Swerdlow, Anthony, additional, Szabo, Csilla I., additional, Tamimi, Rulla, additional, Tapper, William, additional, Teixeira, Manuel R., additional, Teo, Soo-Hwang, additional, Terry, Mary B., additional, Thomassen, Mads, additional, Thompson, Deborah, additional, Tihomirova, Laima, additional, Toland, Amanda E., additional, Tollenaar, Robert A. E. M., additional, Tomlinson, Ian, additional, Truong, Thérèse, additional, Tsimiklis, Helen, additional, Teulé, Alex, additional, Tumino, Rosario, additional, Tung, Nadine, additional, Turnbull, Clare, additional, Ursin, Giski, additional, van Deurzen, Carolien H. M., additional, van Rensburg, Elizabeth J., additional, Varon-Mateeva, Raymonda, additional, Wang, Zhaoming, additional, Wang-Gohrke, Shan, additional, Weiderpass, Elisabete, additional, Weitzel, Jeffrey N., additional, Whittemore, Alice, additional, Wildiers, Hans, additional, Winqvist, Robert, additional, Yang, Xiaohong R., additional, Yannoukakos, Drakoulis, additional, Yao, Song, additional, Zamora, M Pilar, additional, Zheng, Wei, additional, Hall, Per, additional, Kraft, Peter, additional, Vachon, Celine, additional, Slager, Susan, additional, Chenevix-Trench, Georgia, additional, Pharoah, Paul D. P., additional, Monteiro, Alvaro A. N., additional, García-Closas, Montserrat, additional, Easton, Douglas F., additional, and Antoniou, Antonis C., additional
Published: 2016
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12. Genetic predisposition to ductal carcinoma in situ of the breast

Author: Petridis, Christos, primary, Brook, Mark N., additional, Shah, Vandna, additional, Kohut, Kelly, additional, Gorman, Patricia, additional, Caneppele, Michele, additional, Levi, Dina, additional, Papouli, Efterpi, additional, Orr, Nick, additional, Cox, Angela, additional, Cross, Simon S., additional, dos-Santos-Silva, Isabel, additional, Peto, Julian, additional, Swerdlow, Anthony, additional, Schoemaker, Minouk J., additional, Bolla, Manjeet K., additional, Wang, Qin, additional, Dennis, Joe, additional, Michailidou, Kyriaki, additional, Benitez, Javier, additional, González-Neira, Anna, additional, Tessier, Daniel C., additional, Vincent, Daniel, additional, Li, Jingmei, additional, Figueroa, Jonine, additional, Kristensen, Vessela, additional, Borresen-Dale, Anne-Lise, additional, Soucy, Penny, additional, Simard, Jacques, additional, Milne, Roger L., additional, Giles, Graham G., additional, Margolin, Sara, additional, Lindblom, Annika, additional, Brüning, Thomas, additional, Brauch, Hiltrud, additional, Southey, Melissa C., additional, Hopper, John L., additional, Dörk, Thilo, additional, Bogdanova, Natalia V., additional, Kabisch, Maria, additional, Hamann, Ute, additional, Schmutzler, Rita K., additional, Meindl, Alfons, additional, Brenner, Hermann, additional, Arndt, Volker, additional, Winqvist, Robert, additional, Pylkäs, Katri, additional, Fasching, Peter A., additional, Beckmann, Matthias W., additional, Lubinski, Jan, additional, Jakubowska, Anna, additional, Mulligan, Anna Marie, additional, Andrulis, Irene L., additional, Tollenaar, Rob A. E. M., additional, Devilee, Peter, additional, Le Marchand, Loic, additional, Haiman, Christopher A., additional, Mannermaa, Arto, additional, Kosma, Veli-Matti, additional, Radice, Paolo, additional, Peterlongo, Paolo, additional, Marme, Frederik, additional, Burwinkel, Barbara, additional, van Deurzen, Carolien H. M., additional, Hollestelle, Antoinette, additional, Miller, Nicola, additional, Kerin, Michael J., additional, Lambrechts, Diether, additional, Floris, Giuseppe, additional, Wesseling, Jelle, additional, Flyger, Henrik, additional, Bojesen, Stig E., additional, Yao, Song, additional, Ambrosone, Christine B., additional, Chenevix-Trench, Georgia, additional, Truong, Thérèse, additional, Guénel, Pascal, additional, Rudolph, Anja, additional, Chang-Claude, Jenny, additional, Nevanlinna, Heli, additional, Blomqvist, Carl, additional, Czene, Kamila, additional, Brand, Judith S., additional, Olson, Janet E., additional, Couch, Fergus J., additional, Dunning, Alison M., additional, Hall, Per, additional, Easton, Douglas F., additional, Pharoah, Paul D. P., additional, Pinder, Sarah E., additional, Schmidt, Marjanka K, additional, Tomlinson, Ian, additional, Roylance, Rebecca, additional, García-Closas, Montserrat, additional, and Sawyer, Elinor J., additional
Published: 2016
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13. A Transcriptome-Wide Association Study of 229,000 Women Identifies New Candidate Susceptibility Genes for Breast Cancer

Author: Wu, Lang, Shi, Wei, Long, Jirong, Guo, Xingyi, Michailidou, Kyriaki, Beesley, Jonathan, Bolla, Manjeet K., Shu, Xiao-Ou, Lu, Yingchang, Cai, Qiuyin, Al-Ejeh, Fares, Rozali, Esdy, Wang, Qin, Dennis, Joe, Li, Bingshan, Zeng, Chenjie, Feng, Helian, Gusev, Alexander, Barfield, Richard T., Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Auer, Paul L., Barrdahl, Myrto, Baynes, Caroline, Beckmann, Matthias W., Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brucker, Sara Y., Burwinkel, Barbara, Caldés, Trinidad, Canzian, Federico, Carter, Brian D., Castelao, J. Esteban, Chang-Claude, Jenny, Chen, Xiaoqing, Cheng, Ting-Yuan David, Christiansen, Hans, Clarke, Christine L., Collée, Margriet, Cornelissen, Sten, Couch, Fergus J., Cox, David, Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Doheny, Kimberly F., Dörk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Dwek, Miriam, Eccles, Diana M., Eilber, Ursula, Eliassen, A, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, Gapstur, Susan M., García-Closas, Montserrat, Gaudet, Mia M., Ghoussaini, Maya, Giles, Graham G., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hallberg, Emily, Hamann, Ute, Harrington, Patricia, Hein, Alexander, Hicks, Belynda, Hillemanns, Peter, Hollestelle, Antoinette, Hoover, Robert N., Hopper, John L., Huang, Guanmengqian, Humphreys, Keith, Hunter, David, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kerin, Michael J., Khusnutdinova, Elza, Kosma, Veli-Matti, Kristensen, Vessela N., Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Lindström, Sara, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Lubinski, Jan, Luccarini, Craig, Lux, Michael P., MacInnis, Robert J., Maishman, Tom, Kostovska, Ivana Maleva, Mannermaa, Arto, Manson, JoAnn, Margolin, Sara, Mavroudis, Dimitrios, Meijers-Heijboer, Hanne, Meindl, Alfons, Menon, Usha, Meyer, Jeffery, Mulligan, Anna Marie, Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F., Nordestgaard, Børge G., Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Prentice, Ross, Presneau, Nadege, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Romm, Jane, Rudolph, Anja, Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Scott, Rodney J., Scott, Christopher G., Seal, Sheila, Shah, Mitul, Shrubsole, Martha J., Smeets, Ann, Southey, Melissa C., Spinelli, John J., Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J., Tamimi, Rulla, Tapper, William, Taylor, Jack A., Terry, Mary Beth, Tessier, Daniel C., Thomas, Abigail, Thöne, Kathrin, Tollenaar, Rob A. E. M., Torres, Diana, Truong, Thérèse, Untch, Michael, Vachon, Celine, Van Den Berg, David, Vincent, Daniel, Waisfisz, Quinten, Weinberg, Clarice R., Wendt, Camilla, Whittemore, Alice S., Wildiers, Hans, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Xia, Lucy, Yang, Xiaohong R., Ziogas, Argyrios, Ziv, Elad, Dunning, Alison M., Pharoah, Paul D. P., Simard, Jacques, Milne, Roger L., Edwards, Stacey L., Kraft, Phillip, Easton, Douglas F., Chenevix-Trench, Georgia, and Zheng, Wei
Subjects: Research Subject Categories::NATURAL SCIENCES::Biology::Cell and molecular biology::Genetics
Abstract: Breast cancer risk variants identified in genome-wide association studies explain only a small fraction of familial relative risk, and 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., Accepted Manuscript
Published: 2018
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14. Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma

Author: Postel-Vinay, Sophie, primary, Véron, Amélie S, additional, Tirode, Franck, additional, Pierron, Gaelle, additional, Reynaud, Stéphanie, additional, Kovar, Heinrich, additional, Oberlin, Odile, additional, Lapouble, Eve, additional, Ballet, Stelly, additional, Lucchesi, Carlo, additional, Kontny, Udo, additional, González-Neira, Anna, additional, Picci, Piero, additional, Alonso, Javier, additional, Patino-Garcia, Ana, additional, de Paillerets, Brigitte Bressac, additional, Laud, Karine, additional, Dina, Christian, additional, Froguel, Philippe, additional, Clavel-Chapelon, Françoise, additional, Doz, Francois, additional, Michon, Jean, additional, Chanock, Stephen J, additional, Thomas, Gilles, additional, Cox, David G, additional, and Delattre, Olivier, additional
Published: 2012
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15. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

Author: Comino-Méndez, Iñaki, primary, Gracia-Aznárez, Francisco J, additional, Schiavi, Francesca, additional, Landa, Iñigo, additional, Leandro-García, Luis J, additional, Letón, Rocío, additional, Honrado, Emiliano, additional, Ramos-Medina, Rocío, additional, Caronia, Daniela, additional, Pita, Guillermo, additional, Gómez-Graña, Álvaro, additional, de Cubas, Aguirre A, additional, Inglada-Pérez, Lucía, additional, Maliszewska, Agnieszka, additional, Taschin, Elisa, additional, Bobisse, Sara, additional, Pica, Giuseppe, additional, Loli, Paola, additional, Hernández-Lavado, Rafael, additional, Díaz, José A, additional, Gómez-Morales, Mercedes, additional, González-Neira, Anna, additional, Roncador, Giovanna, additional, Rodríguez-Antona, Cristina, additional, Benítez, Javier, additional, Mannelli, Massimo, additional, Opocher, Giuseppe, additional, Robledo, Mercedes, additional, and Cascón, Alberto, additional
Published: 2011
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16. Genetic polymorphisms among C57BL/6 mouse inbred strains

Author: Zurita, Esther, primary, Chagoyen, Mónica, additional, Cantero, Marta, additional, Alonso, Rosario, additional, González-Neira, Anna, additional, López-Jiménez, Alejandro, additional, López-Moreno, José Antonio, additional, Landel, Carlisle P., additional, Benítez, Javier, additional, Pazos, Florencio, additional, and Montoliu, Lluís, additional
Published: 2010
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17. Isolated populations as treasure troves in genetic epidemiology: the case of the Basques

Author: Garagnani, Paolo, primary, Laayouni, Hafid, additional, González-Neira, Anna, additional, Sikora, Martin, additional, Luiselli, Donata, additional, Bertranpetit, Jaume, additional, and Calafell, Francesc, additional
Published: 2009
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18. A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer

Author: Rosa-Rosa, Juan Manuel, primary, Pita, Guillermo, additional, González-Neira, Anna, additional, Milne, Roger L., additional, Fernandez, Victoria, additional, Ruivenkamp, Claudia, additional, van Asperen, Christi J., additional, Devilee, Peter, additional, and Benitez, Javier, additional
Published: 2009
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19. Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes

Author: Ribas, Gloria, primary, González-Neira, Anna, additional, Salas, Antonio, additional, Milne, Roger L., additional, Vega, Ana, additional, Carracedo, Begoña, additional, González, Emilio, additional, Barroso, Eva, additional, Fernández, Lara P., additional, Yankilevich, Patricio, additional, Robledo, Mercedes, additional, Carracedo, Ángel, additional, and Benítez, Javier, additional
Published: 2005
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20. Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22

Author: González-Neira, Anna, primary, Calafell, Francesc, additional, Navarro, Arcadi, additional, Lao, Oscar, additional, Cann, Howard, additional, Comas, David, additional, and Bertranpetit, Jaume, additional
Published: 2004
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21. Association Analysis Identifies 65 New Breast Cancer Risk Loci

Author: Michailidou, Kyriaki, Lindström, Sara, Dennis, Joe, Beesley, Jonathan, Hui, Shirley, Kar, Siddhartha, Lemaçon, Audrey, Soucy, Penny, Glubb, Dylan, Rostamianfar, Asha, Bolla, Manjeet K., Wang, Qin, Tyrer, Jonathan, Dicks, Ed, Lee, Andrew, Wang, Zhaoming, Allen, Jamie, Keeman, Renske, Eilber, Ursula, French, Juliet D., Qing Chen, Xiao, Fachal, Laura, McCue, Karen, McCart Reed, Amy E., Ghoussaini, Maya, Carroll, Jason S., Jiang, Xia, Finucane, Hilary, Adams, Marcia, Adank, Muriel A., Ahsan, Habibul, Aittomäki, Kristiina, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Arun, Banu, Auer, Paul L., Bacot, François, Barrdahl, Myrto, Baynes, Caroline, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brand, Judith S., Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brock, Ian W., Broeks, Annegien, Brooks-Wilson, Angela, Brucker, Sara Y., Brüning, Thomas, Burwinkel, Barbara, Butterbach, Katja, Cai, Qiuyin, Cai, Hui, Caldés, Trinidad, Canzian, Federico, Carracedo, Angel, Carter, Brian D., Castelao, Jose E., Chan, Tsun L., David Cheng, Ting-Yuan, Seng Chia, Kee, Choi, Ji-Yeob, Christiansen, Hans, Clarke, Christine L., Collée, Margriet, Conroy, Don M., Cordina-Duverger, Emilie, Cornelissen, Sten, Cox, David G., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Doheny, Kimberly F., Dörk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A, Ellberg, Carolina, Elvira, Mingajeva, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gaborieau, Valerie, Gabrielson, Marike, Gago-Dominguez, Manuela, Gao, Yu-Tang, Gapstur, Susan M., García-Sáenz, José A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Grenaker Alnæs, Grethe I., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Hartman, Mikael, Hein, Alexander, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Ho, Dona N., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Hou, Ming-Feng, Hsiung, Chia-Ni, Huang, Guanmengqian, Humphreys, Keith, Ishiguro, Junko, Ito, Hidemi, Iwasaki, Motoki, Iwata, Hiroji, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kasuga, Yoshio, Kerin, Michael J., Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung-Won, Knight, Julia A., Kosma, Veli-Matti, Kristensen, Vessela N., Krüger, Ute, Kwong, Ava, Lambrechts, Diether, Le Marchand, Loic, Lee, Eunjung, Lee, Min Hyuk, Lee, Jong Won, Neng Lee, Chuen, Lejbkowicz, Flavio, Li, Jingmei, Lilyquist, Jenna, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Lophatananon, Artitaya, Lubinski, Jan, Luccarini, Craig, Lux, Michael P., Ma, Edmond S. K., MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Malone, Kathleen E., Kostovska, Ivana Maleva, Mannermaa, Arto, Manoukian, Siranoush, Manson, JoAnn, Margolin, Sara, Mariapun, Shivaani, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, McKay, James, McLean, Catriona, Meijers-Heijboer, Hanne, Meindl, Alfons, Menéndez, Primitiva, Menon, Usha, Meyer, Jeffery, Miao, Hui, Miller, Nicola, Taib, Nur Aishah Mohd, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F., Noh, Dong-Young, Nordestgaard, Børge G., Norman, Aaron, Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Olswold, Curtis, Orr, Nick, Pankratz, V. Shane, Park, Sue K., Park-Simon, Tjoung-Won, Lloyd, Rachel, Perez, Jose I. A., Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Pugh, Elizabeth, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rennert, Gadi, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Romm, Jane, Ruddy, Kathryn J., Rüdiger, Thomas, Rudolph, Anja, Ruebner, Matthias, Rutgers, Emiel J. T., Saloustros, Emmanouil, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schumacher, Fredrick, Schürmann, Peter, Scott, Rodney J., Scott, Christopher, Seal, Sheila, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Grace, Sherman, Mark E., Shrubsole, Martha J., Shu, Xiao-Ou, Smeets, Ann, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stegmaier, Christa, Stewart-Brown, Sarah, Stone, Jennifer, Stram, Daniel O., Surowy, Harald, Swerdlow, Anthony, Tamimi, Rulla, Taylor, Jack A., Tengström, Maria, Teo, Soo H., Beth Terry, Mary, Tessier, Daniel C., Thanasitthichai, Somchai, Thöne, Kathrin, Tollenaar, Rob A. E. M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Truong, Thérèse, Tseng, Chiu-Chen, Tsugane, Shoichiro, Ulmer, Hans-Ulrich, Ursin, Giske, Untch, Michael, Vachon, Celine, van Asperen, Christi J., Van Den Berg, David, van den Ouweland, Ans M. W., van der Kolk, Lizet, van der Luijt, Rob B., Vincent, Daniel, Vollenweider, Jason, Waisfisz, Quinten, Wang-Gohrke, Shan, Weinberg, Clarice R., Wendt, Camilla, Whittemore, Alice S., Wildiers, Hans, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yamaji, Taiki, Yang, Xiaohong R., Har Yip, Cheng, Yoo, Keun-Young, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Lakhani, Sunil R., Antoniou, Antonis C., Droit, Arnaud, Andrulis, Irene L., Amos, Christopher I., Couch, Fergus J., Pharoah, Paul D. P., Chang-Claude, Jenny, Hall, Per, Hunter, David, Milne, Roger L., García-Closas, Montserrat, Schmidt, Marjanka K., Chanock, Stephen J., Dunning, Alison M., Edwards, Stacey L., Bader, Gary D., Chenevix-Trench, Georgia, Simard, Jacques, Kraft, Phillip, and Easton, Douglas F.
Subjects: Research Subject Categories::MEDICINE::Dermatology and venerology, clinical genetics, internal medicine::Clinical genetics::Medical genetics, Research Subject Categories::MEDICINE::Morphology, cell biology, pathology::Morphology::Tumour biology
Abstract: Breast cancer risk is influenced by rare coding variants in susceptibility genes such as BRCA1 and many common, mainly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. We report results from a genome-wide association study (GWAS) of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry1. We identified 65 new loci associated with overall breast cancer at p<5x10-8. The majority of credible risk SNPs in the new loci fall in distal regulatory elements, and by integrating in-silico data to predict target genes in breast cells at each locus, we demonstrate a strong overlap between candidate target genes and somatic driver genes in breast tumours. We also find that heritability of breast cancer due to all SNPs in regulatory features was 2-5-fold enriched relative to the genome-wide average, with strong enrichment for particular transcription factor binding sites. These results provide further insight into genetic susceptibility to breast cancer and will improve the utility of genetic risk scores for individualized screening and prevention., Author's Original
Published: 2017
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22. A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

Author: Escala-Garcia, Maria, Abraham, Jean, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Ashworth, Alan, Auer, Paul L, Auvinen, Päivi, Beckmann, Matthias W, Beesley, Jonathan, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Blot, William, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brucker, Sara Y, Burwinkel, Barbara, Caldas, Carlos, Canzian, Federico, Chang-Claude, Jenny, Chanock, Stephen J, Chin, Suet-Feung, Clarke, Christine L, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Dennis, Joe, Devilee, Peter, Dunn, Janet A, Dunning, Alison M, Dwek, Miriam, Earl, Helena M, Eccles, Diana M, Eliassen, A Heather, Ellberg, Carolina, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Gago-Dominguez, Manuela, Gapstur, Susan M, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, George, Angela, Giles, Graham G, Goldgar, David E, González-Neira, Anna, Grip, Mervi, Guénel, Pascal, Guo, Qi, Haiman, Christopher A, Håkansson, Niclas, Hamann, Ute, Harrington, Patricia A, Hiller, Louise, Hooning, Maartje J, Hopper, John L, Howell, Anthony, Huang, Chiun-Sheng, Huang, Guanmengqian, Hunter, David J, Jakubowska, Anna, John, Esther M, Kaaks, Rudolf, Kapoor, Pooja Middha, Keeman, Renske, Kitahara, Cari M, Koppert, Linetta B, Kraft, Peter, Kristensen, Vessela N, Lambrechts, Diether, Le Marchand, Loic, Lejbkowicz, Flavio, Lindblom, Annika, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Maurer, Tabea, Mavroudis, Dimitrios, Meindl, Alfons, Milne, Roger L, Mulligan, Anna Marie, Neuhausen, Susan L, Nevanlinna, Heli, Newman, William G, Olshan, Andrew F, Olson, Janet E, Olsson, Håkan, Orr, Nick, Peterlongo, Paolo, Petridis, Christos, Prentice, Ross L, Presneau, Nadege, Punie, Kevin, Ramachandran, Dhanya, Rennert, Gad, Romero, Atocha, Sachchithananthan, Mythily, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Schwentner, Lukas, Scott, Christopher, Simard, Jacques, Sohn, Christof, Southey, Melissa C, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William J, Teixeira, Manuel R, Terry, Mary Beth, Thorne, Heather, Tollenaar, Rob AEM, Tomlinson, Ian, Troester, Melissa A, Truong, Thérèse, Turnbull, Clare, Vachon, Celine M, Van Der Kolk, Lizet E, Wang, Qin, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R, Ziogas, Argyrios, Pharoah, Paul DP, Hall, Per, Wessels, Lodewyk FA, Chenevix-Trench, Georgia, Bader, Gary D, Dörk, Thilo, Easton, Douglas F, Canisius, Sander, and Schmidt, Marjanka K
Subjects: Genotype, Computational Biology, Genetic Variation, Apoptosis, Breast Neoplasms, Prognosis, GTP-Binding Protein alpha Subunits, 3. Good health, Germ Cells, Receptors, Estrogen, Circadian Clocks, GTP-Binding Protein alpha Subunits, Gq-G11, Humans, Female, Gene Regulatory Networks, Genome-Wide Association Study, Signal Transduction
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.

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

Author: Wu, Lang, Shi, Wei, Long, Jirong, Guo, Xingyi, Michailidou, Kyriaki, Beesley, Jonathan, Bolla, Manjeet K, Shu, Xiao-Ou, Lu, Yingchang, Cai, Qiuyin, Al-Ejeh, Fares, Rozali, Esdy, Wang, Qin, Dennis, Joe, Li, Bingshan, Zeng, Chenjie, Feng, Helian, Gusev, Alexander, Barfield, Richard T, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Auer, Paul L, Barrdahl, Myrto, Baynes, Caroline, Beckmann, Matthias W, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brucker, Sara Y, Burwinkel, Barbara, Caldés, Trinidad, Canzian, Federico, Carter, Brian D, Castelao, J Esteban, Chang-Claude, Jenny, Chen, Xiaoqing, Cheng, Ting-Yuan David, Christiansen, Hans, Clarke, Christine L, NBCS Collaborators, Collée, Margriet, Cornelissen, Sten, Couch, Fergus J, Cox, David, Cox, Angela, Cross, Simon S, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Devilee, Peter, Doheny, Kimberly F, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dumont, Martine, Dwek, Miriam, Eccles, Diana M, Eilber, Ursula, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, Gapstur, Susan M, García-Closas, Montserrat, Gaudet, Mia M, Ghoussaini, Maya, Giles, Graham G, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hallberg, Emily, Hamann, Ute, Harrington, Patricia, Hein, Alexander, Hicks, Belynda, Hillemanns, Peter, Hollestelle, Antoinette, Hoover, Robert N, Hopper, John L, Huang, Guanmengqian, Humphreys, Keith, Hunter, David J, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Johnson, Nichola, Jones, Kristine, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Kerin, Michael J, Khusnutdinova, Elza, Kosma, Veli-Matti, Kristensen, Vessela N, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Lindström, Sara, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Lubinski, Jan, Luccarini, Craig, Lux, Michael P, MacInnis, Robert J, Maishman, Tom, Kostovska, Ivana Maleva, Mannermaa, Arto, Manson, JoAnn E, Margolin, Sara, Mavroudis, Dimitrios, Meijers-Heijboer, Hanne, Meindl, Alfons, Menon, Usha, Meyer, Jeffery, Mulligan, Anna Marie, Neuhausen, Susan L, Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F, Nordestgaard, Børge G, Olopade, Olufunmilayo I, Olson, Janet E, Olsson, Håkan, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Prentice, Ross, Presneau, Nadege, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rennert, Gad, Rennert, Hedy S, Rhenius, Valerie, Romero, Atocha, Romm, Jane, Rudolph, Anja, Saloustros, Emmanouil, Sandler, Dale P, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Schneeweiss, Andreas, Scott, Rodney J, Scott, Christopher G, Seal, Sheila, Shah, Mitul, Shrubsole, Martha J, Smeets, Ann, Southey, Melissa C, Spinelli, John J, Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William, Taylor, Jack A, Terry, Mary Beth, Tessier, Daniel C, Thomas, Abigail, Thöne, Kathrin, Tollenaar, Rob AEM, Torres, Diana, Truong, Thérèse, Untch, Michael, Vachon, Celine, Van Den Berg, David, Vincent, Daniel, Waisfisz, Quinten, Weinberg, Clarice R, Wendt, Camilla, Whittemore, Alice S, Wildiers, Hans, Willett, Walter C, Winqvist, Robert, Wolk, Alicja, Xia, Lucy, Yang, Xiaohong R, Ziogas, Argyrios, Ziv, Elad, KConFab/AOCS Investigators, Dunning, Alison M, Pharoah, Paul DP, Simard, Jacques, Milne, Roger L, Edwards, Stacey L, Kraft, Peter, Easton, Douglas F, Chenevix-Trench, Georgia, and Zheng, Wei
Subjects: Risk, Case-Control Studies, Gene Expression, Humans, Breast Neoplasms, Female, Genetic Predisposition to Disease, Transcriptome, Polymorphism, Single Nucleotide, 3. Good health, Genome-Wide Association Study
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.

24. Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

Author: Darabi, Hatef, Beesley, Jonathan, Droit, Arnaud, Kar, Siddhartha, Nord, Silje, Moradi Marjaneh, Mahdi, Soucy, Penny, Michailidou, Kyriaki, Ghoussaini, Maya, Fues Wahl, Hanna, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Alonso, M Rosario, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W, Benitez, Javier, Bogdanova, Natalia V, Bojesen, Stig E, Brauch, Hiltrud, Brenner, Hermann, Broeks, Annegien, Brüning, Thomas, Burwinkel, Barbara, Chang-Claude, Jenny, Choi, Ji-Yeob, Conroy, Don M, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Easton, Douglas F, Fasching, Peter A, Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Galle, Eva, García-Closas, Montserrat, Giles, Graham G, Goldberg, Mark S, González-Neira, Anna, Guénel, Pascal, Haiman, Christopher A, Hallberg, Emily, Hamann, Ute, Hartman, Mikael, Hollestelle, Antoinette, Hopper, John L, Ito, Hidemi, Jakubowska, Anna, Johnson, Nichola, Kang, Daehee, Khan, Sofia, Kosma, Veli-Matti, Kriege, Mieke, Kristensen, Vessela, Lambrechts, Diether, Le Marchand, Loic, Lee, Soo Chin, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Matsuo, Keitaro, Mayes, Rebecca, McKay, James, Meindl, Alfons, Milne, Roger L, Muir, Kenneth, Neuhausen, Susan L, Nevanlinna, Heli, Olswold, Curtis, Orr, Nick, Peterlongo, Paolo, Pita, Guillermo, Pylkäs, Katri, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Southey, Melissa C, Stram, Daniel O, Surowy, Harald, Swerdlow, Anthony, Teo, Soo H, Tessier, Daniel C, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Vachon, Celine M, Vincent, Daniel, Winqvist, Robert, Wu, Anna H, Wu, Pei-Ei, Yip, Cheng Har, Zheng, Wei, Pharoah, Paul DP, Hall, Per, Edwards, Stacey L, Simard, Jacques, French, Juliet D, Chenevix-Trench, Georgia, and Dunning, Alison M
Subjects: Genotype, Quantitative Trait Loci, Vesicular Transport Proteins, Chromosome Mapping, Humans, Breast Neoplasms, Female, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, White People, 3. Good health, Chromosomes, Human, Pair 17, Genome-Wide Association Study
Abstract: Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90-0.94; P = 8.96 × 10(-15))) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10(-09), r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10(-11), r(2) = 0.83 with lead SNP). Analyses indicate only one causal SNP in the region and several enhancer elements targeting STXBP4 are located within the 53 kb association signal. Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus.

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

Author: Johnson, Nichola, Maguire, Sarah, Morra, Anna, Kapoor, Pooja Middha, Tomczyk, Katarzyna, Jones, Michael E, Schoemaker, Minouk J, Gilham, Clare, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Baynes, Caroline, Freeman, Laura E Beane, Beckmann, Matthias W, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Boeckx, Bram, Bogdanova, Natalia V, Bojesen, Stig E, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Campa, Daniele, Canzian, Federico, Castelao, Jose E, Chanock, Stephen J, Chenevix-Trench, Georgia, Clarke, Christine L, NBCS Collaborators, Conroy, Don M, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Dörk, Thilo, Eliassen, A Heather, Engel, Christoph, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Floris, Giuseppe, Flyger, Henrik, Gago-Dominguez, Manuela, Gapstur, Susan M, García-Closas, Montserrat, Gaudet, Mia M, Giles, Graham G, Goldberg, Mark S, González-Neira, Anna, AOCS Group, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A, Hart, Steven N, Hooning, Maartje J, Hopper, John L, Howell, Anthony, Hunter, David J, ABCTB Investigators, KConFab Investigators, Jager, Agnes, Jakubowska, Anna, John, Esther M, Kaaks, Rudolf, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Kosma, Veli-Matti, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kurian, Allison W, Lambrechts, Diether, Le Marchand, Loic, Linet, Martha, Lubiński, Jan, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John WM, Mavroudis, Dimitrios, Mayes, Rebecca, Meindl, Alfons, Milne, Roger L, Neuhausen, Susan L, Nevanlinna, Heli, Newman, William G, Nielsen, Sune F, Nordestgaard, Børge G, Obi, Nadia, Olshan, Andrew F, Olson, Janet E, Olsson, Håkan, Orban, Ester, Park-Simon, Tjoung-Won, Peterlongo, Paolo, Plaseska-Karanfilska, Dijana, Pylkäs, Katri, Rennert, Gad, Rennert, Hedy S, Ruddy, Kathryn J, Saloustros, Emmanouil, Sandler, Dale P, Sawyer, Elinor J, Schmutzler, Rita K, Scott, Christopher, Shu, Xiao-Ou, Simard, Jacques, Smichkoska, Snezhana, Sohn, Christof, Southey, Melissa C, Spinelli, John J, Stone, Jennifer, Tamimi, Rulla M, Taylor, Jack A, Tollenaar, Rob AEM, Tomlinson, Ian, Troester, Melissa A, Truong, Thérèse, Vachon, Celine M, Van Veen, Elke M, Wang, Sophia S, Weinberg, Clarice R, Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M, Pharoah, Paul DP, Easton, Douglas F, Howie, A Forbes, Peto, Julian, Dos-Santos-Silva, Isabel, Swerdlow, Anthony J, Chang-Claude, Jenny, Schmidt, Marjanka K, Orr, Nick, and Fletcher, Olivia
Subjects: Estrone, Breast Neoplasms, Polymorphism, Single Nucleotide, 3. Good health, Premenopause, Receptors, Estrogen, Case-Control Studies, Cytochrome P-450 CYP3A, Humans, Pregnanediol, Female, Receptors, Progesterone, Alleles, Progesterone, Genome-Wide Association Study
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 × 10-8). 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.

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

Author: Ahearn, Thomas U, Zhang, Haoyu, Michailidou, Kyriaki, Milne, Roger L, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Lush, Michael, Wang, Qin, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Auer, Paul L, Augustinsson, Annelie, Baten, Adinda, Becher, Heiko, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Canzian, Federico, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Clarke, Christine L, NBCS Collaborators, Collée, J Margriet, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dwek, Miriam, Eccles, Diana M, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Floris, Giuseppe, Gago-Dominguez, Manuela, Gapstur, Susan M, García-Sáenz, José A, Gaudet, Mia M, Giles, Graham G, Goldberg, Mark S, González-Neira, Anna, Alnæs, Grethe I Grenaker, Grip, Mervi, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Harkness, Elaine F, Heemskerk-Gerritsen, Bernadette AM, Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Howell, Anthony, ABCTB Investigators, KConFab/AOCS Investigators, Jakimovska, Milena, Jakubowska, Anna, John, Esther M, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Kauppila, Saila, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Ko, Yon-Dschun, Koutros, Stella, Kristensen, Vessela N, Krüger, Ute, Kubelka-Sabit, Katerina, Kurian, Allison W, Kyriacou, Kyriacos, Lambrechts, Diether, Lee, Derrick G, Lindblom, Annika, Linet, Martha, Lissowska, Jolanta, Llaneza, Ana, Lo, Wing-Yee, MacInnis, Robert J, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, McLean, Catriona, Meindl, Alfons, Menon, Usha, Nevanlinna, Heli, Newman, William G, Nodora, Jesse, Offit, Kenneth, Olsson, Håkan, Orr, Nick, Park-Simon, Tjoung-Won, Patel, Alpa V, Peto, Julian, Pita, Guillermo, Plaseska-Karanfilska, Dijana, Prentice, Ross, Punie, Kevin, Pylkäs, Katri, Radice, Paolo, Rennert, Gad, Romero, Atocha, Rüdiger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P, Sawyer, Elinor J, Schmutzler, Rita K, Schoemaker, Minouk J, Schöttker, Ben, Sherman, Mark E, Shu, Xiao-Ou, Smichkoska, Snezhana, Southey, Melissa C, Spinelli, John J, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Teras, Lauren R, Terry, Mary Beth, Torres, Diana, Troester, Melissa A, Vachon, Celine M, Van Deurzen, Carolien HM, Van Veen, Elke M, Wagner, Philippe, Weinberg, Clarice R, Wendt, Camilla, Wesseling, Jelle, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R, Zheng, Wei, Couch, Fergus J, Simard, Jacques, Kraft, Peter, Easton, Douglas F, Pharoah, Paul DP, Schmidt, Marjanka K, García-Closas, Montserrat, and Chatterjee, Nilanjan
Subjects: Common breast cancer susceptibility variants, Risk, Receptor, ErbB-2, Genetic predisposition, Etiologic heterogeneity, Breast Neoplasms, 3. Good health, Breast cancer, Receptors, Estrogen, Biomarkers, Tumor, Humans, Female, Receptors, Progesterone, Genome-Wide Association Study
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.

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

Author: Ferreira, Manuel A, Gamazon, Eric R, Al-Ejeh, Fares, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J, Arun, Banu K, Asseryanis, Ella, Azzollini, Jacopo, Balmaña, Judith, Barnes, Daniel R, Barrowdale, Daniel, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Białkowska, Katarzyna, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Caldés, Trinidad, Caligo, Maria A, Campa, Daniele, Campbell, Ian, Canzian, Federico, Carter, Jonathan, Carter, Brian D, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Christiansen, Hans, Chung, Wendy K, Claes, Kathleen BM, Clarke, Christine L, EMBRACE Collaborators, GC-HBOC Study Collaborators, GEMO Study Collaborators, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, De La Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Dörk, Thilo, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Ejlertsen, Bent, Ellberg, Carolina, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A, Fletcher, Olivia, Flyger, Henrik, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gago-Dominguez, Manuela, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, He, Wei, Heyworth, Jane, Hogervorst, Frans BL, Hollestelle, Antoinette, Hoover, Robert N, Hopper, John L, Hulick, Peter J, Humphreys, Keith, Imyanitov, Evgeny N, ABCTB Investigators, HEBON Investigators, BCFR Investigators, Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul A, Janavicius, Ramunas, Jankowitz, Rachel C, John, Esther M, Johnson, Nichola, Joseph, Vijai, Karlan, Beth Y, Khusnutdinova, Elza, Kiiski, Johanna I, Ko, Yon-Dschun, Jones, Michael E, Konstantopoulou, Irene, Kristensen, Vessela N, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindström, Sara, Long, Jirong, Loud, Jennifer T, Lubiński, Jan, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Maurer, Tabea, Mavroudis, Dimitrios, McGuffog, Lesley, Meindl, Alfons, Menon, Usha, Michailidou, Kyriaki, Miller, Austin, Montagna, Marco, Moreno, Fernando, Moserle, Lidia, Mulligan, Anna Marie, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nevelsteen, Ines, Nielsen, Finn C, Nikitina-Zake, Liene, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olsson, Håkan, Osorio, Ana, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T, Pedersen, Inge Sokilde, Peixoto, Ana, Peterlongo, Paolo, Pharoah, Paul DP, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Presneau, Nadege, Radice, Paolo, Rantala, Johanna, Rennert, Gad, Risch, Harvey A, Saloustros, Emmanouil, Sanden, Kristin, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F, Soucy, Penny, Southey, Melissa C, Spinelli, John J, Spurdle, Amanda B, Stone, Jennifer, Swerdlow, Anthony J, Tapper, William J, Taylor, Jack A, Teixeira, Manuel R, Terry, Mary Beth, Teulé, Alex, Thomassen, Mads, Thöne, Kathrin, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Torres, Diana, Truong, Thérèse, Tung, Nadine, Vachon, Celine M, Van Asperen, Christi J, Van Den Ouweland, Ans MW, Van Rensburg, Elizabeth J, Vega, Ana, Viel, Alessandra, Wang, Qin, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Wendt, Camilla, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Ziogas, Argyrios, Kraft, Peter, Antoniou, Antonis C, Zheng, Wei, Easton, Douglas F, Milne, Roger L, Beesley, Jonathan, and Chenevix-Trench, Georgia
Subjects: Gene Expression Profiling, Quantitative Trait Loci, Humans, Breast Neoplasms, Female, Genetic Predisposition to Disease, skin and connective tissue diseases, 3. Good health, Genome-Wide Association Study
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.

28. Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study

Author: Brouckaert, Olivier, Rudolph, Anja, Laenen, Annouschka, Keeman, Renske, Bolla, Manjeet K, Wang, Qin, Soubry, Adelheid, Wildiers, Hans, Andrulis, Irene L, Arndt, Volker, Beckmann, Matthias W, Benitez, Javier, Blomqvist, Carl, Bojesen, Stig E, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Chenevix-Trench, Georgia, Choi, Ji-Yeob, Cornelissen, Sten, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Eriksson, Mikael, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Giles, Graham G, González-Neira, Anna, Guénel, Pascal, Hall, Per, Hollestelle, Antoinette, Hopper, John L, Ito, Hidemi, Jones, Michael, Kang, Daehee, KConFab, Knight, Julia A, Kosma, Veli-Matti, Li, Jingmei, Lindblom, Annika, Lilyquist, Jenna, Lophatananon, Artitaya, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Matsuo, Keitaro, Muir, Kenneth, Nevanlinna, Heli, Peterlongo, Paolo, Pylkäs, Katri, Saajrang, Suleeporn, Seynaeve, Caroline, Shen, Chen-Yang, Shu, Xiao-Ou, Southey, Melissa C, Swerdlow, Anthony, Teo, Soo-Hwang, Tollenaar, Rob AEM, Truong, Thérèse, Tseng, Chiu-Chen, Van Den Broek, Alexandra J, Van Deurzen, Carolien HM, Winqvist, Robert, Wu, Anna H, Yip, Cheng Har, Yu, Jyh-Cherng, Zheng, Wei, Milne, Roger L, Pharoah, Paul DP, Easton, Douglas F, Schmidt, Marjanka K, Garcia-Closas, Montserrat, Chang-Claude, Jenny, Lambrechts, Diether, and Neven, Patrick
Subjects: Age at menarche, Adult, Breast Neoplasms, Triple Negative Breast Neoplasms, Middle Aged, Risk Assessment, 3. Good health, Cohort Studies, Parity, Young Adult, Age at first full-time pregnancy, Risk Factors, Age at breast cancer diagnosis, Breast cancer subtype, Biomarkers, Tumor, Odds Ratio, Humans, Female, Reproductive History, Aged
Abstract: BACKGROUND: Previous studies have shown that reproductive factors are differentially associated with breast cancer (BC) risk by subtypes. The aim of this study was to investigate associations between reproductive factors and BC subtypes, and whether these vary by age at diagnosis. METHODS: We used pooled data on tumor markers (estrogen and progesterone receptor, human epidermal growth factor receptor-2 (HER2)) and reproductive risk factors (parity, age at first full-time pregnancy (FFTP) and age at menarche) from 28,095 patients with invasive BC from 34 studies participating in the Breast Cancer Association Consortium (BCAC). In a case-only analysis, we used logistic regression to assess associations between reproductive factors and BC subtype compared to luminal A tumors as a reference. The interaction between age and parity in BC subtype risk was also tested, across all ages and, because age was modeled non-linearly, specifically at ages 35, 55 and 75 years. RESULTS: Parous women were more likely to be diagnosed with triple negative BC (TNBC) than with luminal A BC, irrespective of age (OR for parity = 1.38, 95% CI 1.16-1.65, p = 0.0004; p for interaction with age = 0.076). Parous women were also more likely to be diagnosed with luminal and non-luminal HER2-like BCs and this effect was slightly more pronounced at an early age (p for interaction with age = 0.037 and 0.030, respectively). For instance, women diagnosed at age 35 were 1.48 (CI 1.01-2.16) more likely to have luminal HER2-like BC than luminal A BC, while this association was not significant at age 75 (OR = 0.72, CI 0.45-1.14). While age at menarche was not significantly associated with BC subtype, increasing age at FFTP was non-linearly associated with TNBC relative to luminal A BC. An age at FFTP of 25 versus 20 years lowered the risk for TNBC (OR = 0.78, CI 0.70-0.88, p < 0.0001), but this effect was not apparent at a later FFTP. CONCLUSIONS: Our main findings suggest that parity is associated with TNBC across all ages at BC diagnosis, whereas the association with luminal HER2-like BC was present only for early onset BC.

29. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Author: Fachal, Laura, Aschard, Hugues, Beesley, Jonathan, Barnes, Daniel R, Allen, Jamie, Kar, Siddhartha, Pooley, Karen A, Dennis, Joe, Michailidou, Kyriaki, Turman, Constance, Soucy, Penny, Lemaçon, Audrey, Lush, Michael, Tyrer, Jonathan P, Ghoussaini, Maya, Moradi Marjaneh, Mahdi, Jiang, Xia, Agata, Simona, Aittomäki, Kristiina, Alonso, M Rosario, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J, Arun, Banu K, Auber, Bernd, Auer, Paul L, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barrowdale, Daniel, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Białkowska, Katarzyna, Blanco, Amie M, Blomqvist, Carl, Blot, William, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Borg, Ake, Bosse, Kristin, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Brock, Ian W, Brooks-Wilson, Angela, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Cai, Qiuyin, Caldés, Trinidad, Caligo, Maria A, Camp, Nicola J, Campbell, Ian, Canzian, Federico, Carroll, Jason S, Carter, Brian D, Castelao, Jose E, Chiquette, Jocelyne, Christiansen, Hans, Chung, Wendy K, Claes, Kathleen BM, Clarke, Christine L, GEMO Study Collaborators, EMBRACE Collaborators, Collée, J Margriet, Cornelissen, Sten, Couch, Fergus J, Cox, Angela, Cross, Simon S, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, De La Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S, Domchek, Susan M, Dörk, Thilo, Dos-Santos-Silva, Isabel, Droit, Arnaud, Dubois, Stéphane, Dumont, Martine, Duran, Mercedes, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M, Engel, Christoph, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Fletcher, Olivia, Floris, Giuseppe, Flyger, Henrik, Foretova, Lenka, Foulkes, William D, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gago-Dominguez, Manuela, Gambino, Gaetana, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, García-Sáenz, José A, Gaudet, Mia M, Georgoulias, Vassilios, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Tibiletti, Maria Grazia, Greene, Mark H, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A, Hartikainen, Jaana M, Hartman, Mikael, He, Wei, Healey, Catherine S, Heemskerk-Gerritsen, Bernadette AM, Heyworth, Jane, Hillemanns, Peter, Hogervorst, Frans BL, Hollestelle, Antoinette, Hooning, Maartje J, Hopper, John L, Howell, Anthony, Huang, Guanmengqian, Hulick, Peter J, Imyanitov, Evgeny N, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Isaacs, Claudine, Iwasaki, Motoki, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul A, Janavicius, Ramunas, Jankowitz, Rachel C, John, Esther M, Johnson, Nichola, Jones, Michael E, Jukkola-Vuorinen, Arja, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Kapoor, Pooja Middha, Karlan, Beth Y, Keeman, Renske, Kerin, Michael J, Khusnutdinova, Elza, Kiiski, Johanna I, Kirk, Judy, Kitahara, Cari M, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Koutros, Stella, Kubelka-Sabit, Katerina, Kwong, Ava, Kyriacou, Kyriacos, Laitman, Yael, Lambrechts, Diether, Lee, Eunjung, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindblom, Annika, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Loud, Jennifer T, Lubiński, Jan, MacInnis, Robert J, Maishman, Tom, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matsuo, Keitaro, Maurer, Tabea, Mavroudis, Dimitrios, Mayes, Rebecca, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Miller, Nicola, Montagna, Marco, Moreno, Fernando, Muir, Kenneth, Mulligan, Anna Marie, Muñoz-Garzon, Victor M, Muranen, Taru A, Narod, Steven A, Nassir, Rami, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Neven, Patrick, Nielsen, Finn C, Nikitina-Zake, Liene, Norman, Aaron, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olsson, Håkan, Orr, Nick, Osorio, Ana, Pankratz, V Shane, Papp, Janos, Park, Sue K, Park-Simon, Tjoung-Won, Parsons, Michael T, Paul, James, Pedersen, Inge Sokilde, Peissel, Bernard, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Pujana, Miquel Angel, Pylkäs, Katri, Radice, Paolo, Ramus, Susan J, Rantala, Johanna, Rau-Murthy, Rohini, Rennert, Gad, Risch, Harvey A, Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sánchez-Herrero, Estela, Sandler, Dale P, Santamariña, Marta, Saunders, Christobel, Sawyer, Elinor J, Scheuner, Maren T, Schmidt, Daniel F, Schmutzler, Rita K, Schneeweiss, Andreas, Schoemaker, Minouk J, Schöttker, Ben, Schürmann, Peter, Scott, Christopher, Scott, Rodney J, Senter, Leigha, Seynaeve, Caroline M, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Shu, Xiao-Ou, Singer, Christian F, Slavin, Thomas P, Smichkoska, Snezhana, Southey, Melissa C, Spinelli, John J, Spurdle, Amanda B, Stone, Jennifer, Stoppa-Lyonnet, Dominique, Sutter, Christian, Swerdlow, Anthony J, Tamimi, Rulla M, Tan, Yen Yen, Tapper, William J, Taylor, Jack A, Teixeira, Manuel R, Tengström, Maria, Teo, Soo Hwang, Terry, Mary Beth, Teulé, Alex, Thomassen, Mads, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tollenaar, Rob AEM, Tomlinson, Ian, Torres, Diana, Torres-Mejía, Gabriela, Troester, Melissa A, Truong, Thérèse, Tung, Nadine, Tzardi, Maria, Ulmer, Hans-Ulrich, Vachon, Celine M, Van Asperen, Christi J, Van Der Kolk, Lizet E, Van Rensburg, Elizabeth J, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vogel, Maartje J, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Wu, Anna H, Yannoukakos, Drakoulis, Zhang, Yan, Zheng, Wei, Hunter, David, Pharoah, Paul DP, Chang-Claude, Jenny, García-Closas, Montserrat, Schmidt, Marjanka K, Milne, Roger L, Kristensen, Vessela N, French, Juliet D, Edwards, Stacey L, Antoniou, Antonis C, Chenevix-Trench, Georgia, Simard, Jacques, Easton, Douglas F, Kraft, Peter, and Dunning, Alison M
Subjects: Quantitative Trait Loci, Chromosome Mapping, Bayes Theorem, Breast Neoplasms, Regulatory Sequences, Nucleic Acid, Polymorphism, Single Nucleotide, Linkage Disequilibrium, 3. Good health, Risk Factors, Biomarkers, Tumor, Humans, Female, Genetic Predisposition to Disease, Genome-Wide Association Study
Abstract: Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes.

30. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Author: Coignard, Juliette, Lush, Michael, Beesley, Jonathan, O'Mara, Tracy A, Dennis, Joe, Tyrer, Jonathan P, Barnes, Daniel R, McGuffog, Lesley, Leslie, Goska, Bolla, Manjeet K, Adank, Muriel A, Agata, Simona, Ahearn, Thomas, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Arun, Banu K, Augustinsson, Annelie, Azzollini, Jacopo, Barrowdale, Daniel, Baynes, Caroline, Becher, Heiko, Bermisheva, Marina, Bernstein, Leslie, Białkowska, Katarzyna, Blomqvist, Carl, Bojesen, Stig E, Bonanni, Bernardo, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campa, Daniele, Carter, Brian D, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chung, Wendy K, Claes, Kathleen BM, Clarke, Christine L, GEMO Study Collaborators, EMBRACE Collaborators, Collée, J Margriet, Conroy, Don M, Czene, Kamila, Daly, Mary B, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M, Garber, Judy, Garcia-Barberan, Vanesa, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, Gayther, Simon A, Gehrig, Andrea, Georgoulias, Vassilios, Giles, Graham G, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A, Hart, Steven N, He, Wei, Hogervorst, Frans BL, Hollestelle, Antoinette, Hopper, John L, Horcasitas, Darling J, Hulick, Peter J, Hunter, David J, Imyanitov, Evgeny N, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Jager, Agnes, Jakubowska, Anna, James, Paul A, Jensen, Uffe Birk, John, Esther M, Jones, Michael E, Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y, Keeman, Renske, Khusnutdinova, Elza, Kiiski, Johanna I, Ko, Yon-Dschun, Kosma, Veli-Matti, Kraft, Peter, Kurian, Allison W, Laitman, Yael, Lambrechts, Diether, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Tricia, Lopez-Fernández, Adria, Loud, Jennifer T, Luccarini, Craig, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John WM, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Milne, Roger L, Montagna, Marco, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nielsen, Finn C, O'Brien, Katie M, Olopade, Olufunmilayo I, Olson, Janet E, Olsson, Håkan, Osorio, Ana, Ottini, Laura, Park-Simon, Tjoung-Won, Parsons, Michael T, Pedersen, Inge Sokilde, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul DP, Phillips, Kelly-Anne, Polley, Eric C, Poppe, Bruce, Presneau, Nadege, Pujana, Miquel Angel, Punie, Kevin, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U, Rennert, Gad, Rennert, Hedy S, Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sandler, Dale P, Santella, Regina, Scheuner, Maren T, Schmidt, Marjanka K, Schmidt, Gunnar, Scott, Christopher, Sharma, Priyanka, Soucy, Penny, Southey, Melissa C, Spinelli, John J, Steinsnyder, Zoe, Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Terry, Mary Beth, Teulé, Alex, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Torres, Diana, Trainer, Alison H, Truong, Thérèse, Tung, Nadine, Vachon, Celine M, Vega, Ana, Vijai, Joseph, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wendt, Camilla, Wolk, Alicja, Yadav, Siddhartha, Yang, Xiaohong R, Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K, Park, Sue K, Thomassen, Mads, Offit, Kenneth, Schmutzler, Rita K, Couch, Fergus J, Simard, Jacques, Chenevix-Trench, Georgia, Easton, Douglas F, Andrieu, Nadine, and Antoniou, Antonis C
Subjects: Adult, BRCA2 Protein, endocrine system diseases, Genotype, BRCA1 Protein, Quantitative Trait Loci, Breast Neoplasms, Middle Aged, Polymorphism, Single Nucleotide, Linkage Disequilibrium, 3. Good health, Risk Factors, Mutation, Humans, Female, Genetic Predisposition to Disease, skin and connective tissue diseases, Alleles, Genome-Wide Association Study
Abstract: Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10-8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.

31. Exome array analysis identifies ETFB as a novel susceptibility gene for anthracycline-induced cardiotoxicity in cancer patients

Author: María R Alonso, Guillermo Pita, Javier Benitez, Anna González-Neira, Antonio Pérez-Martínez, Sara Ruiz-Pinto, Purificación García-Miguel, Daniel R. Barnes, Federico Gutiérrez-Larraya, Miguel Martin, Antonio J. Cartón, José A. García-Sáenz, Javier Alonso, Teresa Alonso-Gordoa, Ana Patiño-García, Douglas F. Easton, Belen Herraez, González-Neira, Anna [0000-0002-5421-2020], and Apollo - University of Cambridge Repository
Subjects: Adult, 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, Electron-Transferring Flavoproteins, ETFB, Low-frequency variants, Breast Neoplasms, Long-term cancer survivors, 03 medical and health sciences, Breast cancer, Cancer Survivors, Internal medicine, medicine, Humans, Missense mutation, Anthracyclines, Exome, Genetic Predisposition to Disease, Gene, Genetic Association Studies, Aged, Heart Failure, Genetics, Cardiotoxicity, business.industry, Cancer, Chronic cardiotoxicity, Middle Aged, medicine.disease, Pediatric cancer, Mitochondria, Gene Expression Regulation, Neoplastic, 030104 developmental biology, Cohort, Female, business
Abstract: PURPOSE: Anthracyclines are widely used chemotherapeutic drugs that can cause progressive and irreversible cardiac damage and fatal heart failure. Several genetic variants associated with anthracycline-induced cardiotoxicity (AIC) have been identified, but they explain only a small proportion of the interindividual differences in AIC susceptibility. METHODS: In this study, we evaluated the association of low-frequency variants with risk of chronic AIC using the Illumina HumanExome BeadChip array in a discovery cohort of 61 anthracycline-treated breast cancer patients with replication in a second independent cohort of 83 anthracycline-treated pediatric cancer patients, using gene-based tests (SKAT-O). RESULTS: The most significant associated gene in the discovery cohort was ETFB (electron transfer flavoprotein beta subunit) involved in mitochondrial β-oxidation and ATP production (P = 4.16 × 10-4) and this association was replicated in an independent set of anthracycline-treated cancer patients (P = 2.81 × 10-3). Within ETFB, we found that the missense variant rs79338777 (p.Pro52Leu; c.155C > T) made the greatest contribution to the observed gene association and it was associated with increased risk of chronic AIC in the two cohorts separately and when combined (OR 9.00, P = 1.95 × 10-4, 95% CI 2.83-28.6). CONCLUSIONS: We identified and replicated a novel gene, ETFB, strongly associated with chronic AIC independently of age at tumor onset and related to anthracycline-mediated mitochondrial dysfunction. Although experimental verification and further studies in larger patient cohorts are required to confirm our finding, we demonstrated that exome array data analysis represents a valuable strategy to identify novel genes contributing to the susceptibility to chronic AIC.
Published: 2017
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31 results on '"González-Neira, Anna"'

1. FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

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

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

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

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

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

7. Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility

8. Correction: Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

9. Exome array analysis identifies ETFB as a novel susceptibility gene for anthracycline-induced cardiotoxicity in cancer patients

10. Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

11. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

12. Genetic predisposition to ductal carcinoma in situ of the breast

13. A Transcriptome-Wide Association Study of 229,000 Women Identifies New Candidate Susceptibility Genes for Breast Cancer

14. Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma

15. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

16. Genetic polymorphisms among C57BL/6 mouse inbred strains

17. Isolated populations as treasure troves in genetic epidemiology: the case of the Basques

18. A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer

19. Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes

20. Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22

21. Association Analysis Identifies 65 New Breast Cancer Risk Loci

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

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

24. Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

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

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

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

28. Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study

29. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

30. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

31. Exome array analysis identifies ETFB as a novel susceptibility gene for anthracycline-induced cardiotoxicity in cancer patients

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31 results on '"González-Neira, Anna"'

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