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

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36 results on '"Caldés, Trinidad"'

1. 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

2. 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

3. Publisher Correction: Shared heritability and functional enrichment across six solid cancers

Author: Jiang, Xia, primary, Finucane, Hilary K., additional, Schumacher, Fredrick R., additional, Schmit, Stephanie L., additional, Tyrer, Jonathan P., additional, Han, Younghun, additional, Michailidou, Kyriaki, additional, Lesseur, Corina, additional, Kuchenbaecker, Karoline B., additional, Dennis, Joe, additional, Conti, David V., additional, Casey, Graham, additional, Gaudet, Mia M., additional, Huyghe, Jeroen R., additional, Albanes, Demetrius, additional, Aldrich, Melinda C., additional, Andrew, Angeline S., additional, Andrulis, Irene L., additional, Anton-Culver, Hoda, additional, Antoniou, Antonis C., additional, Antonenkova, Natalia N., additional, Arnold, Susanne M., additional, Aronson, Kristan J., additional, Arun, Banu K., additional, Bandera, Elisa V., additional, Barkardottir, Rosa B., additional, Barnes, Daniel R., additional, Batra, Jyotsna, additional, Beckmann, Matthias W., additional, Benitez, Javier, additional, Benlloch, Sara, additional, Berchuck, Andrew, additional, Berndt, Sonja I., additional, Bickeböller, Heike, additional, Bien, Stephanie A., additional, Blomqvist, Carl, additional, Boccia, Stefania, additional, Bogdanova, Natalia V., additional, Bojesen, Stig E., additional, Bolla, Manjeet K., additional, Brauch, Hiltrud, additional, Brenner, Hermann, additional, Brenton, James D., additional, Brook, Mark N., additional, Brunet, Joan, additional, Brunnström, Hans, additional, Buchanan, Daniel D., additional, Burwinkel, Barbara, additional, Butzow, Ralf, additional, Cadoni, Gabriella, additional, Caldés, Trinidad, additional, Caligo, Maria A., additional, Campbell, Ian, additional, Campbell, Peter T., additional, Cancel-Tassin, Géraldine, additional, Cannon-Albright, Lisa, additional, Campa, Daniele, additional, Caporaso, Neil, additional, Carvalho, André L., additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Chanock, Stephen J., additional, Chen, Chu, additional, Christiani, David C., additional, Claes, Kathleen B. M., additional, Claessens, Frank, additional, Clements, Judith, additional, Collée, J. Margriet, additional, Correa, Marcia Cruz, additional, Couch, Fergus J., additional, Cox, Angela, additional, Cunningham, Julie M., additional, Cybulski, Cezary, additional, Czene, Kamila, additional, Daly, Mary B., additional, deFazio, Anna, additional, Devilee, Peter, additional, Diez, Orland, additional, Gago-Dominguez, Manuela, additional, Donovan, Jenny L., additional, Dörk, Thilo, additional, Duell, Eric J., additional, Dunning, Alison M., additional, Dwek, Miriam, additional, Eccles, Diana M., additional, Edlund, Christopher K., additional, Edwards, Digna R. Velez, additional, Ellberg, Carolina, additional, Evans, D. Gareth, additional, Fasching, Peter A., additional, Ferris, Robert L., additional, Liloglou, Triantafillos, additional, Figueiredo, Jane C., additional, Fletcher, Olivia, additional, Fortner, Renée T., additional, Fostira, Florentia, additional, Franceschi, Silvia, additional, Friedman, Eitan, additional, Gallinger, Steven J., additional, Ganz, Patricia A., additional, Garber, Judy, additional, García-Sáenz, José A., additional, Gayther, Simon A., additional, Giles, Graham G., additional, Godwin, Andrew K., additional, Goldberg, Mark S., additional, Goldgar, David E., additional, Goode, Ellen L., additional, Goodman, Marc T., additional, Goodman, Gary, additional, Grankvist, Kjell, additional, Greene, Mark H., additional, Gronberg, Henrik, additional, Gronwald, Jacek, additional, Guénel, Pascal, additional, Håkansson, Niclas, additional, Hall, Per, additional, Hamann, Ute, additional, Hamdy, Freddie C., additional, Hamilton, Robert J., additional, Hampe, Jochen, additional, Haugen, Aage, additional, Heitz, Florian, additional, Herrero, Rolando, additional, Hillemanns, Peter, additional, Hoffmeister, Michael, additional, Høgdall, Estrid, additional, Hong, Yun-Chul, additional, Hopper, John L., additional, Houlston, Richard, additional, Hulick, Peter J., additional, Hunter, David J., additional, Huntsman, David G., additional, Idos, Gregory, additional, Imyanitov, Evgeny N., additional, Ingles, Sue Ann, additional, Isaacs, Claudine, additional, Jakubowska, Anna, additional, James, Paul, additional, Jenkins, Mark A., additional, Johansson, Mattias, additional, Johansson, Mikael, additional, John, Esther M., additional, Joshi, Amit D., additional, Kaneva, Radka, additional, Karlan, Beth Y., additional, Kelemen, Linda E., additional, Kühl, Tabea, additional, Khaw, Kay-Tee, additional, Khusnutdinova, Elza, additional, Kibel, Adam S., additional, Kiemeney, Lambertus A., additional, Kim, Jeri, additional, Kjaer, Susanne K., additional, Knight, Julia A., additional, Kogevinas, Manolis, additional, Kote-Jarai, Zsofia, additional, Koutros, Stella, additional, Kristensen, Vessela N., additional, Kupryjanczyk, Jolanta, additional, Lacko, Martin, additional, Lam, Stephan, additional, Lambrechts, Diether, additional, Landi, Maria Teresa, additional, Lazarus, Philip, additional, Le, Nhu D., additional, Lee, Eunjung, additional, Lejbkowicz, Flavio, additional, Lenz, Heinz-Josef, additional, Leslie, Goska, additional, Lessel, Davor, additional, Lester, Jenny, additional, Levine, Douglas A., additional, Li, Li, additional, Li, Christopher I., additional, Lindblom, Annika, additional, Lindor, Noralane M., additional, Liu, Geoffrey, additional, Loupakis, Fotios, additional, Lubiński, Jan, additional, Maehle, Lovise, additional, Maier, Christiane, additional, Mannermaa, Arto, additional, Marchand, Loic Le, additional, Margolin, Sara, additional, May, Taymaa, additional, McGuffog, Lesley, additional, Meindl, Alfons, additional, Middha, Pooja, additional, Miller, Austin, additional, Milne, Roger L., additional, MacInnis, Robert J., additional, Modugno, Francesmary, additional, Montagna, Marco, additional, Moreno, Victor, additional, Moysich, Kirsten B., additional, Mucci, Lorelei, additional, Muir, Kenneth, additional, Mulligan, Anna Marie, additional, Nathanson, Katherine L., additional, Neal, David E., additional, Ness, Andrew R., additional, Neuhausen, Susan L., additional, Nevanlinna, Heli, additional, Newcomb, Polly A., additional, Newcomb, Lisa F., additional, Nielsen, Finn Cilius, additional, Nikitina-Zake, Liene, additional, Nordestgaard, Børge G., additional, Nussbaum, Robert L., additional, Offit, Kenneth, additional, Olah, Edith, additional, Olama, Ali Amin Al, additional, Olopade, Olufunmilayo I., additional, Olshan, Andrew F., additional, Olsson, Håkan, additional, Osorio, Ana, additional, Pandha, Hardev, additional, Park, Jong Y., additional, Pashayan, Nora, additional, Parsons, Michael T., additional, Pejovic, Tanja, additional, Penney, Kathryn L., additional, Peters, Wilbert H. M., additional, Phelan, Catherine M., additional, Phipps, Amanda I., additional, Plaseska-Karanfilska, Dijana, additional, Pring, Miranda, additional, Prokofyeva, Darya, additional, Radice, Paolo, additional, Stefansson, Kari, additional, Ramus, Susan J., additional, Raskin, Leon, additional, Rennert, Gad, additional, Rennert, Hedy S., additional, van Rensburg, Elizabeth J., additional, Riggan, Marjorie J., additional, Risch, Harvey A., additional, Risch, Angela, additional, Roobol, Monique J., additional, Rosenstein, Barry S., additional, Rossing, Mary Anne, additional, De Ruyck, Kim, additional, Saloustros, Emmanouil, additional, Sandler, Dale P., additional, Sawyer, Elinor J., additional, Schabath, Matthew B., additional, Schleutker, Johanna, additional, Schmidt, Marjanka K., additional, Setiawan, V. Wendy, additional, Shen, Hongbing, additional, Siegel, Erin M., additional, Sieh, Weiva, additional, Singer, Christian F., additional, Slattery, Martha L., additional, Sorensen, Karina Dalsgaard, additional, Southey, Melissa C., additional, Spurdle, Amanda B., additional, Stanford, Janet L., additional, Stevens, Victoria L., additional, Stintzing, Sebastian, additional, Stone, Jennifer, additional, Sundfeldt, Karin, additional, Sutphen, Rebecca, additional, Swerdlow, Anthony J., additional, Tajara, Eloiza H., additional, Tangen, Catherine M., additional, Tardon, Adonina, additional, Taylor, Jack A., additional, Teare, M. Dawn, additional, Teixeira, Manuel R., additional, Terry, Mary Beth, additional, Terry, Kathryn L., additional, Thibodeau, Stephen N., additional, Thomassen, Mads, additional, Bjørge, Line, additional, Tischkowitz, Marc, additional, Toland, Amanda E., additional, Torres, Diana, additional, Townsend, Paul A., additional, Travis, Ruth C., additional, Tung, Nadine, additional, Tworoger, Shelley S., additional, Ulrich, Cornelia M., additional, Usmani, Nawaid, additional, Vachon, Celine M., additional, Van Nieuwenhuysen, Els, additional, Vega, Ana, additional, Aguado-Barrera, Miguel Elías, additional, Wang, Qin, additional, Webb, Penelope M., additional, Weinberg, Clarice R., additional, Weinstein, Stephanie, additional, Weissler, Mark C., additional, Weitzel, Jeffrey N., additional, West, Catharine M. L., additional, White, Emily, additional, Whittemore, Alice S., additional, Wichmann, H-Erich, additional, Wiklund, Fredrik, additional, Winqvist, Robert, additional, Wolk, Alicja, additional, Woll, Penella, additional, Woods, Michael, additional, Wu, Anna H., additional, Wu, Xifeng, additional, Yannoukakos, Drakoulis, additional, Zheng, Wei, additional, Zienolddiny, Shanbeh, additional, Ziogas, Argyrios, additional, Zorn, Kristin K., additional, Lane, Jacqueline M., additional, Saxena, Richa, additional, Thomas, Duncan, additional, Hung, Rayjean J., additional, Diergaarde, Brenda, additional, McKay, James, additional, Peters, Ulrike, additional, Hsu, Li, additional, García-Closas, Montserrat, additional, Eeles, Rosalind A., additional, Chenevix-Trench, Georgia, additional, Brennan, Paul J., additional, Haiman, Christopher A., additional, Simard, Jacques, additional, Easton, Douglas F., additional, Gruber, Stephen B., additional, Pharoah, Paul D. P., additional, Price, Alkes L., additional, Pasaniuc, Bogdan, additional, Amos, Christopher I., additional, Kraft, Peter, additional, and Lindström, Sara, additional
Published: 2019
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4. Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing

Author: Lorca, Víctor, primary, Rueda, Daniel, additional, Martín-Morales, Lorena, additional, Fernández-Aceñero, María Jesús, additional, Grolleman, Judith, additional, Poves, Carmen, additional, Llovet, Patricia, additional, Tapial, Sandra, additional, García-Barberán, Vanesa, additional, Sanz, Julián, additional, Pérez-Segura, Pedro, additional, de Voer, Richarda M., additional, Díaz-Rubio, Eduardo, additional, de la Hoya, Miguel, additional, Caldés, Trinidad, additional, and Garre, Pilar, additional
Published: 2019
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5. Shared heritability and functional enrichment across six solid cancers

Author: Jiang, Xia, primary, Finucane, Hilary K., additional, Schumacher, Fredrick R., additional, Schmit, Stephanie L., additional, Tyrer, Jonathan P., additional, Han, Younghun, additional, Michailidou, Kyriaki, additional, Lesseur, Corina, additional, Kuchenbaecker, Karoline B., additional, Dennis, Joe, additional, Conti, David V., additional, Casey, Graham, additional, Gaudet, Mia M., additional, Huyghe, Jeroen R., additional, Albanes, Demetrius, additional, Aldrich, Melinda C., additional, Andrew, Angeline S., additional, Andrulis, Irene L., additional, Anton-Culver, Hoda, additional, Antoniou, Antonis C., additional, Antonenkova, Natalia N., additional, Arnold, Susanne M., additional, Aronson, Kristan J., additional, Arun, Banu K., additional, Bandera, Elisa V., additional, Barkardottir, Rosa B., additional, Barnes, Daniel R., additional, Batra, Jyotsna, additional, Beckmann, Matthias W., additional, Benitez, Javier, additional, Benlloch, Sara, additional, Berchuck, Andrew, additional, Berndt, Sonja I., additional, Bickeböller, Heike, additional, Bien, Stephanie A., additional, Blomqvist, Carl, additional, Boccia, Stefania, additional, Bogdanova, Natalia V., additional, Bojesen, Stig E., additional, Bolla, Manjeet K., additional, Brauch, Hiltrud, additional, Brenner, Hermann, additional, Brenton, James D., additional, Brook, Mark N., additional, Brunet, Joan, additional, Brunnström, Hans, additional, Buchanan, Daniel D., additional, Burwinkel, Barbara, additional, Butzow, Ralf, additional, Cadoni, Gabriella, additional, Caldés, Trinidad, additional, Caligo, Maria A., additional, Campbell, Ian, additional, Campbell, Peter T., additional, Cancel-Tassin, Géraldine, additional, Cannon-Albright, Lisa, additional, Campa, Daniele, additional, Caporaso, Neil, additional, Carvalho, André L., additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Chanock, Stephen J., additional, Chen, Chu, additional, Christiani, David C., additional, Claes, Kathleen B. M., additional, Claessens, Frank, additional, Clements, Judith, additional, Collée, J. Margriet, additional, Correa, Marcia Cruz, additional, Couch, Fergus J., additional, Cox, Angela, additional, Cunningham, Julie M., additional, Cybulski, Cezary, additional, Czene, Kamila, additional, Daly, Mary B., additional, deFazio, Anna, additional, Devilee, Peter, additional, Diez, Orland, additional, Gago-Dominguez, Manuela, additional, Donovan, Jenny L., additional, Dörk, Thilo, additional, Duell, Eric J., additional, Dunning, Alison M., additional, Dwek, Miriam, additional, Eccles, Diana M., additional, Edlund, Christopher K., additional, Edwards, Digna R Velez, additional, Ellberg, Carolina, additional, Evans, D. Gareth, additional, Fasching, Peter A., additional, Ferris, Robert L., additional, Liloglou, Triantafillos, additional, Figueiredo, Jane C., additional, Fletcher, Olivia, additional, Fortner, Renée T., additional, Fostira, Florentia, additional, Franceschi, Silvia, additional, Friedman, Eitan, additional, Gallinger, Steven J., additional, Ganz, Patricia A., additional, Garber, Judy, additional, García-Sáenz, José A., additional, Gayther, Simon A., additional, Giles, Graham G., additional, Godwin, Andrew K., additional, Goldberg, Mark S., additional, Goldgar, David E., additional, Goode, Ellen L., additional, Goodman, Marc T., additional, Goodman, Gary, additional, Grankvist, Kjell, additional, Greene, Mark H., additional, Gronberg, Henrik, additional, Gronwald, Jacek, additional, Guénel, Pascal, additional, Håkansson, Niclas, additional, Hall, Per, additional, Hamann, Ute, additional, Hamdy, Freddie C., additional, Hamilton, Robert J., additional, Hampe, Jochen, additional, Haugen, Aage, additional, Heitz, Florian, additional, Herrero, Rolando, additional, Hillemanns, Peter, additional, Hoffmeister, Michael, additional, Høgdall, Estrid, additional, Hong, Yun-Chul, additional, Hopper, John L., additional, Houlston, Richard, additional, Hulick, Peter J., additional, Hunter, David J., additional, Huntsman, David G., additional, Idos, Gregory, additional, Imyanitov, Evgeny N., additional, Ingles, Sue Ann, additional, Isaacs, Claudine, additional, Jakubowska, Anna, additional, James, Paul, additional, Jenkins, Mark A., additional, Johansson, Mattias, additional, Johansson, Mikael, additional, John, Esther M., additional, Joshi, Amit D., additional, Kaneva, Radka, additional, Karlan, Beth Y., additional, Kelemen, Linda E., additional, Kühl, Tabea, additional, Khaw, Kay-Tee, additional, Khusnutdinova, Elza, additional, Kibel, Adam S., additional, Kiemeney, Lambertus A., additional, Kim, Jeri, additional, Kjaer, Susanne K., additional, Knight, Julia A., additional, Kogevinas, Manolis, additional, Kote-Jarai, Zsofia, additional, Koutros, Stella, additional, Kristensen, Vessela N., additional, Kupryjanczyk, Jolanta, additional, Lacko, Martin, additional, Lam, Stephan, additional, Lambrechts, Diether, additional, Landi, Maria Teresa, additional, Lazarus, Philip, additional, Le, Nhu D., additional, Lee, Eunjung, additional, Lejbkowicz, Flavio, additional, Lenz, Heinz-Josef, additional, Leslie, Goska, additional, Lessel, Davor, additional, Lester, Jenny, additional, Levine, Douglas A., additional, Li, Li, additional, Li, Christopher I., additional, Lindblom, Annika, additional, Lindor, Noralane M., additional, Liu, Geoffrey, additional, Loupakis, Fotios, additional, Lubiński, Jan, additional, Maehle, Lovise, additional, Maier, Christiane, additional, Mannermaa, Arto, additional, Marchand, Loic Le, additional, Margolin, Sara, additional, May, Taymaa, additional, McGuffog, Lesley, additional, Meindl, Alfons, additional, Middha, Pooja, additional, Miller, Austin, additional, Milne, Roger L., additional, MacInnis, Robert J., additional, Modugno, Francesmary, additional, Montagna, Marco, additional, Moreno, Victor, additional, Moysich, Kirsten B., additional, Mucci, Lorelei, additional, Muir, Kenneth, additional, Mulligan, Anna Marie, additional, Nathanson, Katherine L., additional, Neal, David E., additional, Ness, Andrew R., additional, Neuhausen, Susan L., additional, Nevanlinna, Heli, additional, Newcomb, Polly A., additional, Newcomb, Lisa F., additional, Nielsen, Finn Cilius, additional, Nikitina-Zake, Liene, additional, Nordestgaard, Børge G., additional, Nussbaum, Robert L., additional, Offit, Kenneth, additional, Olah, Edith, additional, Olama, Ali Amin Al, additional, Olopade, Olufunmilayo I., additional, Olshan, Andrew F., additional, Olsson, Håkan, additional, Osorio, Ana, additional, Pandha, Hardev, additional, Park, Jong Y., additional, Pashayan, Nora, additional, Parsons, Michael T., additional, Pejovic, Tanja, additional, Penney, Kathryn L., additional, Peters, Wilbert H M., additional, Phelan, Catherine M., additional, Phipps, Amanda I., additional, Plaseska-Karanfilska, Dijana, additional, Pring, Miranda, additional, Prokofyeva, Darya, additional, Radice, Paolo, additional, Stefansson, Kari, additional, Ramus, Susan J., additional, Raskin, Leon, additional, Rennert, Gad, additional, Rennert, Hedy S., additional, van Rensburg, Elizabeth J., additional, Riggan, Marjorie J., additional, Risch, Harvey A., additional, Risch, Angela, additional, Roobol, Monique J., additional, Rosenstein, Barry S., additional, Rossing, Mary Anne, additional, De Ruyck, Kim, additional, Saloustros, Emmanouil, additional, Sandler, Dale P., additional, Sawyer, Elinor J., additional, Schabath, Matthew B., additional, Schleutker, Johanna, additional, Schmidt, Marjanka K., additional, Setiawan, V. Wendy, additional, Shen, Hongbing, additional, Siegel, Erin M., additional, Sieh, Weiva, additional, Singer, Christian F., additional, Slattery, Martha L., additional, Sorensen, Karina Dalsgaard, additional, Southey, Melissa C., additional, Spurdle, Amanda B., additional, Stanford, Janet L., additional, Stevens, Victoria L., additional, Stintzing, Sebastian, additional, Stone, Jennifer, additional, Sundfeldt, Karin, additional, Sutphen, Rebecca, additional, Swerdlow, Anthony J., additional, Tajara, Eloiza H., additional, Tangen, Catherine M., additional, Tardon, Adonina, additional, Taylor, Jack A., additional, Teare, M. Dawn, additional, Teixeira, Manuel R., additional, Terry, Mary Beth, additional, Terry, Kathryn L., additional, Thibodeau, Stephen N., additional, Thomassen, Mads, additional, Bjørge, Line, additional, Tischkowitz, Marc, additional, Toland, Amanda E., additional, Torres, Diana, additional, Townsend, Paul A., additional, Travis, Ruth C., additional, Tung, Nadine, additional, Tworoger, Shelley S., additional, Ulrich, Cornelia M., additional, Usmani, Nawaid, additional, Vachon, Celine M., additional, Van Nieuwenhuysen, Els, additional, Vega, Ana, additional, Aguado-Barrera, Miguel Elías, additional, Wang, Qin, additional, Webb, Penelope M., additional, Weinberg, Clarice R., additional, Weinstein, Stephanie, additional, Weissler, Mark C., additional, Weitzel, Jeffrey N., additional, West, Catharine M. L., additional, White, Emily, additional, Whittemore, Alice S., additional, Wichmann, H-Erich, additional, Wiklund, Fredrik, additional, Winqvist, Robert, additional, Wolk, Alicja, additional, Woll, Penella, additional, Woods, Michael, additional, Wu, Anna H., additional, Wu, Xifeng, additional, Yannoukakos, Drakoulis, additional, Zheng, Wei, additional, Zienolddiny, Shanbeh, additional, Ziogas, Argyrios, additional, Zorn, Kristin K., additional, Lane, Jacqueline M., additional, Saxena, Richa, additional, Thomas, Duncan, additional, Hung, Rayjean J., additional, Diergaarde, Brenda, additional, McKay, James, additional, Peters, Ulrike, additional, Hsu, Li, additional, García-Closas, Montserrat, additional, Eeles, Rosalind A., additional, Chenevix-Trench, Georgia, additional, Brennan, Paul J., additional, Haiman, Christopher A., additional, Simard, Jacques, additional, Easton, Douglas F., additional, Gruber, Stephen B., additional, Pharoah, Paul D. P., additional, Price, Alkes L., additional, Pasaniuc, Bogdan, additional, Amos, Christopher I., additional, Kraft, Peter, additional, and Lindström, Sara, additional
Published: 2019
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6. Differential distribution and enrichment of non-coding RNAs in exosomes from normal and Cancer-associated fibroblasts in colorectal cancer

Author: Herrera, Mercedes, primary, Llorens, Carlos, additional, Rodríguez, Marta, additional, Herrera, Alberto, additional, Ramos, Ricardo, additional, Gil, Beatriz, additional, Candia, Antonio, additional, Larriba, María Jesús, additional, Garre, Pilar, additional, Earl, Julie, additional, Rodríguez-Garrote, Mercedes, additional, Caldés, Trinidad, additional, Bonilla, Félix, additional, Carrato, Alfredo, additional, García-Barberán, Vanesa, additional, and Peña, Cristina, additional
Published: 2018
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7. Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes

Author: Gayarre, Javier, primary, Martín-Gimeno, Paloma, additional, Osorio, Ana, additional, Paumard, Beatriz, additional, Barroso, Alicia, additional, Fernández, Victoria, additional, de la Hoya, Miguel, additional, Rojo, Alejandro, additional, Caldés, Trinidad, additional, Palacios, José, additional, Urioste, Miguel, additional, Benítez, Javier, additional, and García, María J, additional
Published: 2017
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8. A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families

Author: Llovet, Patricia, primary, Illana, Francisco J., additional, Martín-Morales, Lorena, additional, de la Hoya, Miguel, additional, Garre, Pilar, additional, Ibañez-Royo, M. Dolores, additional, Pérez-Segura, Pedro, additional, Caldés, Trinidad, additional, and García-Barberán, Vanesa, additional
Published: 2017
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9. BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study

Author: de Juan, Inmaculada, primary, Palanca, Sarai, additional, Domenech, Asunción, additional, Feliubadaló, Lidia, additional, Segura, Ángel, additional, Osorio, Ana, additional, Chirivella, Isabel, additional, de la Hoya, Miguel, additional, Sánchez, Ana Beatriz, additional, Infante, Mar, additional, Tena, Isabel, additional, Díez, Orland, additional, Garcia-Casado, Zaida, additional, Vega, Ana, additional, Teulé, Àlex, additional, Barroso, Alicia, additional, Pérez, Pedro, additional, Durán, Mercedes, additional, Carrasco, Estela, additional, Juan-Fita, Mª José, additional, Murria, Rosa, additional, Llop, Marta, additional, Barragan, Eva, additional, Izquierdo, Ángel, additional, Benítez, Javier, additional, Caldés, Trinidad, additional, Salas, Dolores, additional, and Bolufer, Pascual, additional
Published: 2015
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10. BRCA1 Alternative splicing landscape in breast tissue samples

Author: Romero, Atocha, primary, García-García, Francisco, additional, López-Perolio, Irene, additional, Ruiz de Garibay, Gorka, additional, García-Sáenz, José A, additional, Garre, Pilar, additional, Ayllón, Patricia, additional, Benito, Esperanza, additional, Dopazo, Joaquín, additional, Díaz-Rubio, Eduardo, additional, Caldés, Trinidad, additional, and de la Hoya, Miguel, additional
Published: 2015
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11. Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers

Author: Zugazagoitia, Jon, primary, Pérez-Segura, Pedro, additional, Manzano, Arancha, additional, Blanco, Ignacio, additional, Vega, Ana, additional, Custodio, Ana, additional, Teulé, Alex, additional, Fachal, Laura, additional, Martínez, Beatriz, additional, González-Sarmiento, Rogelio, additional, Cruz-Hernández, Juan Jesús, additional, Chirivella, Isabel, additional, Garcés, Vicente, additional, Garre, Pilar, additional, Romero, Atocha, additional, Caldés, Trinidad, additional, Díaz-Rubio, Eduardo, additional, and de la Hoya, Miguel, additional
Published: 2014
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12. Cancer risk and overall survival in mismatch repair proficient hereditary non-polyposis colorectal cancer, Lynch syndrome and sporadic colorectal cancer

Author: Garre, Pilar, primary, Martín, Lorena, additional, Bando, Inmaculada, additional, Tosar, Alicia, additional, Llovet, Patricia, additional, Sanz, Julián, additional, Romero, Atocha, additional, de la Hoya, Miguel, additional, Díaz-Rubio, Eduardo, additional, and Caldés, Trinidad, additional
Published: 2013
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13. Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families

Author: de Garibay, Gorka Ruiz, primary, Díaz, Avellaneda, additional, Gaviña, Belén, additional, Romero, Atocha, additional, Garre, Pilar, additional, Vega, Ana, additional, Blanco, Ana, additional, Tosar, Alicia, additional, Díez, Orland, additional, Pérez-Segura, Pedro, additional, Díaz-Rubio, Eduardo, additional, Caldés, Trinidad, additional, and de la Hoya, Miguel, additional
Published: 2012
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14. Study of KRAS new predictive marker in a clinical laboratory

Author: Bando, Inmaculada, primary, Cillero, Lourdes, additional, Sanz-Ortega, Julián, additional, Llovet, Patricia, additional, Pescador, Paula, additional, Ferrer, Milagros, additional, de la Hoya, Miguel, additional, Sastre, Javier, additional, García, Eduardo Díaz-Rubio, additional, and Caldés, Trinidad, additional
Published: 2012
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15. Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin

Author: Ruiz de Garibay, Gorka, primary, Gutiérrez-Enríquez, Sara, additional, Garre, Pilar, additional, Bonache, Sandra, additional, Romero, Atocha, additional, Palomo, Laura, additional, Sánchez de Abajo, Ana, additional, Benítez, Javier, additional, Balmaña, Judith, additional, Pérez-Segura, Pedro, additional, Díaz-Rubio, Eduardo, additional, Díez, Orland, additional, Caldés, Trinidad, additional, and de la Hoya, Miguel, additional
Published: 2012
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16. Topoisomerase 2 alpha: a real predictor of anthracycline efficacy?

Author: Romero, Atocha, primary, Caldés, Trinidad, additional, Díaz-Rubio, Eduardo, additional, and Martín, Miguel, additional
Published: 2012
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17. Changes in the expression of plasma proteins associated with thrombosis in BRCA1 mutation carriers

Author: Custodio, Ana, primary, López-Farré, Antonio J., additional, Zamorano-León, José J., additional, Mateos-Cáceres, Petra J., additional, Macaya, Carlos, additional, Caldés, Trinidad, additional, de la Hoya, Miguel, additional, Olivera, Elena, additional, Puente, Javier, additional, Díaz-Rubio, Eduardo, additional, and Pérez-Segura, Pedro, additional
Published: 2012
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18. Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

Author: Blanco, Ana, primary, de la Hoya, Miguel, additional, Balmaña, Judith, additional, Ramón y Cajal, Teresa, additional, Teulé, Alex, additional, Miramar, María-Dolores, additional, Esteban, Eva, additional, Infante, Mar, additional, Benítez, Javier, additional, Torres, Asunción, additional, Tejada, María-Isabel, additional, Brunet, Joan, additional, Graña, Begoña, additional, Balbín, Milagros, additional, Pérez-Segura, Pedro, additional, Osorio, Ana, additional, Velasco, Eladio A., additional, Chirivella, Isabel, additional, Calvo, María-Teresa, additional, Feliubadaló, Lidia, additional, Lasa, Adriana, additional, Díez, Orland, additional, Carracedo, Angel, additional, Caldés, Trinidad, additional, and Vega, Ana, additional
Published: 2011
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19. Evidence for a link between TNFRSF11A and risk of breast cancer

Author: Bonifaci, Núria, primary, Palafox, Marta, additional, Pellegrini, Pasquale, additional, Osorio, Ana, additional, Benítez, Javier, additional, Peterlongo, Paolo, additional, Manoukian, Siranoush, additional, Peissel, Bernard, additional, Zaffaroni, Daniela, additional, Roversi, Gaia, additional, Barile, Monica, additional, Viel, Alessandra, additional, Mariette, Frederique, additional, Bernard, Loris, additional, Radice, Paolo, additional, Kaufman, Bella, additional, Laitman, Yael, additional, Milgrom, Roni, additional, Friedman, Eitan, additional, Sáez, María E., additional, Climent, Fina, additional, Soler, María Teresa, additional, Diez, Orland, additional, Balmaña, Judith, additional, Lasa, Adriana, additional, Ramón y Cajal, Teresa, additional, Miramar, María-Dolores, additional, de la Hoya, Miguel, additional, Pérez-Segura, Pedro, additional, Caldés, Trinidad, additional, Moreno, Víctor, additional, Urruticoechea, Ander, additional, Brunet, Joan, additional, Lázaro, Conxi, additional, Blanco, Ignacio, additional, Pujana, Miguel Angel, additional, and González-Suárez, Eva, additional
Published: 2011
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20. A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families

Author: Romero, Atocha, primary, Pérez-Segura, Pedro, additional, Tosar, Alicia, additional, García-Saenz, José Ángel, additional, Díaz-Rubio, Eduardo, additional, Caldés, Trinidad, additional, and de la Hoya, Miguel, additional
Published: 2011
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21. Reassessing the TARBP2 mutation rate in hereditary nonpolyposis colorectal cancer

Author: Garre, Pilar, primary, Pérez-Segura, Pedro, additional, Díaz-Rubio, Eduardo, additional, Caldés, Trinidad, additional, and de la Hoya, Miguel, additional
Published: 2010
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22. International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

Author: Peixoto, Ana, primary, Santos, Catarina, additional, Pinheiro, Manuela, additional, Pinto, Pedro, additional, Soares, Maria José, additional, Rocha, Patrícia, additional, Gusmão, Leonor, additional, Amorim, António, additional, van der Hout, Annemarie, additional, Gerdes, Anne-Marie, additional, Thomassen, Mads, additional, Kruse, Torben A., additional, Cruger, Dorthe, additional, Sunde, Lone, additional, Bignon, Yves-Jean, additional, Uhrhammer, Nancy, additional, Cornil, Lucie, additional, Rouleau, Etienne, additional, Lidereau, Rosette, additional, Yannoukakos, Drakoulis, additional, Pertesi, Maroulio, additional, Narod, Steven, additional, Royer, Robert, additional, Costa, Maurício M., additional, Lazaro, Conxi, additional, Feliubadaló, Lidia, additional, Graña, Begoña, additional, Blanco, Ignacio, additional, de la Hoya, Miguel, additional, Caldés, Trinidad, additional, Maillet, Philippe, additional, Benais-Pont, Gaelle, additional, Pardo, Bruno, additional, Laitman, Yael, additional, Friedman, Eitan, additional, Velasco, Eladio A., additional, Durán, Mercedes, additional, Miramar, Maria-Dolores, additional, Valle, Ana Rodriguez, additional, Calvo, María-Teresa, additional, Vega, Ana, additional, Blanco, Ana, additional, Diez, Orland, additional, Gutiérrez-Enríquez, Sara, additional, Balmaña, Judith, additional, Ramon y Cajal, Teresa, additional, Alonso, Carmen, additional, Baiget, Montserrat, additional, Foulkes, William, additional, Tischkowitz, Marc, additional, Kyle, Rachel, additional, Sabbaghian, Nelly, additional, Ashton-Prolla, Patricia, additional, Ewald, Ingrid P., additional, Rajkumar, Thangarajan, additional, Mota-Vieira, Luisa, additional, Giannini, Giuseppe, additional, Gulino, Alberto, additional, Achatz, Maria I., additional, Carraro, Dirce M., additional, de Paillerets, Brigitte Bressac, additional, Remenieras, Audrey, additional, Benson, Cindy, additional, Casadei, Silvia, additional, King, Mary-Claire, additional, Teugels, Erik, additional, and Teixeira, Manuel R., additional
Published: 2010
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23. Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

Author: Milne, Roger L., primary, Osorio, Ana, additional, Ramón y Cajal, Teresa, additional, Baiget, Montserrat, additional, Lasa, Adriana, additional, Diaz-Rubio, Eduardo, additional, de la Hoya, Miguel, additional, Caldés, Trinidad, additional, Teulé, Alex, additional, Lázaro, Conxi, additional, Blanco, Ignacio, additional, Balmaña, Judith, additional, Sánchez-Ollé, Gessamí, additional, Vega, Ana, additional, Blanco, Ana, additional, Chirivella, Isabel, additional, Esteban Cardeñosa, Eva, additional, Durán, Mercedes, additional, Velasco, Eladio, additional, Martínez de Dueñas, Eduardo, additional, Tejada, María-Isabel, additional, Miramar, María-Dolores, additional, Calvo, María-Teresa, additional, Guillén-Ponce, Carmen, additional, Salazar, Raquel, additional, San Román, Carlos, additional, Urioste, Miguel, additional, and Benítez, Javier, additional
Published: 2009
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24. Risk-reduction surgery in BRCA mutation carriers in a Spanish population: adherence and results

Author: Pérez Segura, Pedro, primary, Jiménez, Paula, additional, Olivera, Helena, additional, Conejero, Raquel Andrés, additional, Caldés, Trinidad, additional, de la Hoya, Miguel, additional, Román, Jose María, additional, Moreno, Arancha, additional, Puente, Javier, additional, and Díaz-Rubio, Eduardo, additional
Published: 2008
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25. Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families

Author: García, María J., primary, Fernández, Victoria, additional, Osorio, Ana, additional, Barroso, Alicia, additional, LLort, Gemma, additional, Lázaro, Conxi, additional, Blanco, Ignacio, additional, Caldés, Trinidad, additional, de la Hoya, Miguel, additional, Ramón y Cajal, Teresa, additional, Alonso, Carmen, additional, Tejada, María-Isabel, additional, San Román, Carlos, additional, Robles-Díaz, Luis, additional, Urioste, Miguel, additional, and Benítez, Javier, additional
Published: 2008
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26. Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer

Author: Gutiérrez-Enríquez, Sara, primary, de La Hoya, Miguel, additional, Martínez-Bouzas, Cristina, additional, de Abajo, Ana Sanchez, additional, Cajal, Teresa Ramón y, additional, Llort, Gemma, additional, Blanco, Ignacio, additional, Beristain, Elena, additional, Díaz-Rubio, Eduardo, additional, Alonso, Carmen, additional, Tejada, María-Isabel, additional, Caldés, Trinidad, additional, and Diez, Orland, additional
Published: 2006
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27. Lack of Germ-line Mutations at the Specific BRCA1-IRIS Coding Sequence in 114 Spanish High-risk Breast/ovarian Families

Author: Hoya, Miguel de la, primary, Fernández, Juan Manuel, additional, de Abajo, Ana Sánchez, additional, Tosar, Alicia, additional, Díaz-Rubio, Eduardo, additional, and Caldés, Trinidad, additional
Published: 2005
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28. The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families

Author: Sánchez de Abajo, Ana, primary, Hoya, Miguel de la, additional, Godino, Javier, additional, Furió, Vicente, additional, Tosar, Alicia, additional, Pérez-Segura, Pedro, additional, Díaz-Rubio, Eduardo, additional, and Caldés, Trinidad, additional
Published: 2005
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29. Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations

Author: Osorio, Ana, primary, de la Hoya, Miguel, additional, Rodríguez-López, Raquel, additional, Granizo, Juan José, additional, Díez, Orland, additional, Vega, Ana, additional, Durán, Mercedes, additional, Carracedo, Angel, additional, Baiget, Montserrat, additional, Caldés, Trinidad, additional, and Benítez, Javier, additional
Published: 2003
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30. 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.

31. 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.

32. 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.

33. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Author: Qian, Frank, Rookus, Matti A, Leslie, Goska, Risch, Harvey A, Greene, Mark H, Aalfs, Cora M, Adank, Muriel A, Adlard, Julian, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Andrulis, Irene L, Arnold, Norbert, Arun, Banu K, Ausems, Margreet GEM, Azzollini, Jacopo, Barrowdale, Daniel, Barwell, Julian, Benitez, Javier, Białkowska, Katarzyna, Bonadona, Valérie, Borde, Julika, Borg, Ake, Bradbury, Angela R, Brunet, Joan, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Carter, Jonathan, Chiquette, Jocelyne, Chung, Wendy K, Claes, Kathleen BM, Collée, J Margriet, Collonge-Rame, Marie-Agnès, Couch, Fergus J, Daly, Mary B, Delnatte, Capucine, Diez, Orland, Domchek, Susan M, Dorfling, Cecilia M, Eason, Jacqueline, Easton, Douglas F, Eeles, Ros, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Feliubadaló, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Garcia-Barberan, Vanesa, Gehrig, Andrea, Glendon, Gord, Godwin, Andrew K, Gómez Garcia, Encarna B, Hamann, Ute, Hauke, Jan, Hopper, John L, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, Janavicius, Ramunas, John, Esther M, Karlan, Beth Y, Kets, Carolien M, Laitman, Yael, Lázaro, Conxi, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Loud, Jennifer T, Lubiński, Jan, Łukomska, Alicja, McGuffog, Lesley, Mebirouk, Noura, Meijers-Heijboer, Hanne EJ, Meindl, Alfons, Miller, Austin, Montagna, Marco, Mooij, Thea M, Mouret-Fourme, Emmanuelle, Nathanson, Katherine L, Nehoray, Bita, Neuhausen, Susan L, Nevanlinna, Heli, Nielsen, Finn C, Offit, Kenneth, Olah, Edith, Ong, Kai-Ren, Oosterwijk, Jan C, Ottini, Laura, Parsons, Michael T, Peterlongo, Paolo, Pfeiler, Georg, Pradhan, Nisha, Radice, Paolo, Ramus, Susan J, Rantala, Johanna, Rennert, Gad, Robson, Mark, Rodriguez, Gustavo C, Salani, Ritu, Scheuner, Maren T, Schmutzler, Rita K, Shah, Payal D, Side, Lucy E, Simard, Jacques, Singer, Christian F, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Tan, Yen Yen, Teixeira, Manuel R, Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E, Tung, Nadine, Van Asperen, Christi J, Van Engelen, Klaartje, Van Rensburg, Elizabeth J, Venat-Bouvet, Laurence, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Weitzel, Jeffrey N, Yannoukakos, Drakoulis, KConFab Investigators, HEBON Investigators, GEMO Study Collaborators, EMBRACE Collaborators, Antoniou, Antonis C, Goldgar, David E, Olopade, Olufunmilayo I, Chenevix-Trench, Georgia, Rebbeck, Timothy R, Huo, Dezheng, and CIMBA
Subjects: 2. Zero hunger, Adult, Ovarian Neoplasms, Heterozygote, Genes, BRCA2, Genes, BRCA1, Mendelian Randomization Analysis, Middle Aged, Body Height, 3. Good health, Body Mass Index, Mutation, Humans, Female, Menopause, Aged, Proportional Hazards Models
Abstract: BACKGROUND: Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown. METHODS: We applied a Mendelian randomisation approach to examine height/BMI with ovarian cancer risk using the Consortium of Investigators for the Modifiers of BRCA1/2 (CIMBA) data set, comprising 14,676 BRCA1 and 7912 BRCA2 mutation carriers, with 2923 ovarian cancer cases. We created a height genetic score (height-GS) using 586 height-associated variants and a BMI genetic score (BMI-GS) using 93 BMI-associated variants. Associations were assessed using weighted Cox models. RESULTS: Observed height was not associated with ovarian cancer risk (hazard ratio [HR]: 1.07 per 10-cm increase in height, 95% confidence interval [CI]: 0.94-1.23). Height-GS showed similar results (HR = 1.02, 95% CI: 0.85-1.23). Higher BMI was significantly associated with increased risk in premenopausal women with HR = 1.25 (95% CI: 1.06-1.48) and HR = 1.59 (95% CI: 1.08-2.33) per 5-kg/m2 increase in observed and genetically determined BMI, respectively. No association was found for postmenopausal women. Interaction between menopausal status and BMI was significant (Pinteraction < 0.05). CONCLUSION: Our observation of a positive association between BMI and ovarian cancer risk in premenopausal BRCA1/2 mutation carriers is consistent with findings in the general population.

34. 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.

35. Shared heritability and functional enrichment across six solid cancers

Author: Jiang, Xia, Finucane, Hilary K, Schumacher, Fredrick R, Schmit, Stephanie L, Tyrer, Jonathan P, Han, Younghun, Michailidou, Kyriaki, Lesseur, Corina, Kuchenbaecker, Karoline B, Dennis, Joe, Conti, David V, Casey, Graham, Gaudet, Mia M, Huyghe, Jeroen R, Albanes, Demetrius, Aldrich, Melinda C, Andrew, Angeline S, Andrulis, Irene L, Anton-Culver, Hoda, Antoniou, Antonis C, Antonenkova, Natalia N, Arnold, Susanne M, Aronson, Kristan J, Arun, Banu K, Bandera, Elisa V, Barkardottir, Rosa B, Barnes, Daniel R, Batra, Jyotsna, Beckmann, Matthias W, Benitez, Javier, Benlloch, Sara, Berchuck, Andrew, Berndt, Sonja I, Bickeböller, Heike, Bien, Stephanie A, Blomqvist, Carl, Boccia, Stefania, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Brauch, Hiltrud, Brenner, Hermann, Brenton, James D, Brook, Mark N, Brunet, Joan, Brunnström, Hans, Buchanan, Daniel D, Burwinkel, Barbara, Butzow, Ralf, Cadoni, Gabriella, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Campbell, Peter T, Cancel-Tassin, Géraldine, Cannon-Albright, Lisa, Campa, Daniele, Caporaso, Neil, Carvalho, André L, Chan, Andrew T, Chang-Claude, Jenny, Chanock, Stephen J, Chen, Chu, Christiani, David C, Claes, Kathleen BM, Claessens, Frank, Clements, Judith, Collée, J Margriet, Correa, Marcia Cruz, Couch, Fergus J, Cox, Angela, Cunningham, Julie M, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, DeFazio, Anna, Devilee, Peter, Diez, Orland, Gago-Dominguez, Manuela, Donovan, Jenny L, Dörk, Thilo, Duell, Eric J, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Edlund, Christopher K, Edwards, Digna R Velez, Ellberg, Carolina, Evans, D Gareth, Fasching, Peter A, Ferris, Robert L, Liloglou, Triantafillos, Figueiredo, Jane C, Fletcher, Olivia, Fortner, Renée T, Fostira, Florentia, Franceschi, Silvia, Friedman, Eitan, Gallinger, Steven J, Ganz, Patricia A, Garber, Judy, García-Sáenz, José A, Gayther, Simon A, Giles, Graham G, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, Goode, Ellen L, Goodman, Marc T, Goodman, Gary, Grankvist, Kjell, Greene, Mark H, Gronberg, Henrik, Gronwald, Jacek, Guénel, Pascal, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hamdy, Freddie C, Hamilton, Robert J, Hampe, Jochen, Haugen, Aage, Heitz, Florian, Herrero, Rolando, Hillemanns, Peter, Hoffmeister, Michael, Høgdall, Estrid, Hong, Yun-Chul, Hopper, John L, Houlston, Richard, Hulick, Peter J, Hunter, David J, Huntsman, David G, Idos, Gregory, Imyanitov, Evgeny N, Ingles, Sue Ann, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Jenkins, Mark A, Johansson, Mattias, Johansson, Mikael, John, Esther M, Joshi, Amit D, Kaneva, Radka, Karlan, Beth Y, Kelemen, Linda E, Kühl, Tabea, Khaw, Kay-Tee, Khusnutdinova, Elza, Kibel, Adam S, Kiemeney, Lambertus A, Kim, Jeri, Kjaer, Susanne K, Knight, Julia A, Kogevinas, Manolis, Kote-Jarai, Zsofia, Koutros, Stella, Kristensen, Vessela N, Kupryjanczyk, Jolanta, Lacko, Martin, Lam, Stephan, Lambrechts, Diether, Landi, Maria Teresa, Lazarus, Philip, Le, Nhu D, Lee, Eunjung, Lejbkowicz, Flavio, Lenz, Heinz-Josef, Leslie, Goska, Lessel, Davor, Lester, Jenny, Levine, Douglas A, Li, Li, Li, Christopher I, Lindblom, Annika, Lindor, Noralane M, Liu, Geoffrey, Loupakis, Fotios, Lubiński, Jan, Maehle, Lovise, Maier, Christiane, Mannermaa, Arto, Marchand, Loic Le, Margolin, Sara, May, Taymaa, McGuffog, Lesley, Meindl, Alfons, Middha, Pooja, Miller, Austin, Milne, Roger L, MacInnis, Robert J, Modugno, Francesmary, Montagna, Marco, Moreno, Victor, Moysich, Kirsten B, Mucci, Lorelei, Muir, Kenneth, Mulligan, Anna Marie, Nathanson, Katherine L, Neal, David E, Ness, Andrew R, Neuhausen, Susan L, Nevanlinna, Heli, Newcomb, Polly A, Newcomb, Lisa F, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olama, Ali Amin Al, Olopade, Olufunmilayo I, Olshan, Andrew F, Olsson, Håkan, Osorio, Ana, Pandha, Hardev, Park, Jong Y, Pashayan, Nora, Parsons, Michael T, Pejovic, Tanja, Penney, Kathryn L, Peters, Wilbert HM, Phelan, Catherine M, Phipps, Amanda I, Plaseska-Karanfilska, Dijana, Pring, Miranda, Prokofyeva, Darya, Radice, Paolo, Stefansson, Kari, Ramus, Susan J, Raskin, Leon, Rennert, Gad, Rennert, Hedy S, Van Rensburg, Elizabeth J, Riggan, Marjorie J, Risch, Harvey A, Risch, Angela, Roobol, Monique J, Rosenstein, Barry S, Rossing, Mary Anne, De Ruyck, Kim, Saloustros, Emmanouil, Sandler, Dale P, Sawyer, Elinor J, Schabath, Matthew B, Schleutker, Johanna, Schmidt, Marjanka K, Setiawan, V Wendy, Shen, Hongbing, Siegel, Erin M, Sieh, Weiva, Singer, Christian F, Slattery, Martha L, Sorensen, Karina Dalsgaard, Southey, Melissa C, Spurdle, Amanda B, Stanford, Janet L, Stevens, Victoria L, Stintzing, Sebastian, Stone, Jennifer, Sundfeldt, Karin, Sutphen, Rebecca, Swerdlow, Anthony J, Tajara, Eloiza H, Tangen, Catherine M, Tardon, Adonina, Taylor, Jack A, Teare, M Dawn, Teixeira, Manuel R, Terry, Mary Beth, Terry, Kathryn L, Thibodeau, Stephen N, Thomassen, Mads, Bjørge, Line, Tischkowitz, Marc, Toland, Amanda E, Torres, Diana, Townsend, Paul A, Travis, Ruth C, Tung, Nadine, Tworoger, Shelley S, Ulrich, Cornelia M, Usmani, Nawaid, Vachon, Celine M, Van Nieuwenhuysen, Els, Vega, Ana, Aguado-Barrera, Miguel Elías, Wang, Qin, Webb, Penelope M, Weinberg, Clarice R, Weinstein, Stephanie, Weissler, Mark C, Weitzel, Jeffrey N, West, Catharine ML, White, Emily, Whittemore, Alice S, Wichmann, H-Erich, Wiklund, Fredrik, Winqvist, Robert, Wolk, Alicja, Woll, Penella, Woods, Michael, Wu, Anna H, Wu, Xifeng, Yannoukakos, Drakoulis, Zheng, Wei, Zienolddiny, Shanbeh, Ziogas, Argyrios, Zorn, Kristin K, Lane, Jacqueline M, Saxena, Richa, Thomas, Duncan, Hung, Rayjean J, Diergaarde, Brenda, McKay, James, Peters, Ulrike, Hsu, Li, García-Closas, Montserrat, Eeles, Rosalind A, Chenevix-Trench, Georgia, Brennan, Paul J, Haiman, Christopher A, Simard, Jacques, Easton, Douglas F, Gruber, Stephen B, Pharoah, Paul DP, Price, Alkes L, Pasaniuc, Bogdan, Amos, Christopher I, Kraft, Peter, and Lindström, Sara
Subjects: Male, Ovarian Neoplasms, Lung Neoplasms, Mental Disorders, Smoking, Inheritance Patterns, Prostatic Neoplasms, Breast Neoplasms, Polymorphism, Single Nucleotide, White People, 3. Good health, Neoplasm Proteins, Phenotype, Head and Neck Neoplasms, Case-Control Studies, Humans, Female, Genetic Predisposition to Disease, Colorectal Neoplasms, Genome-Wide Association Study
Abstract: Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic correlations between lung and head/neck cancer (rg = 0.57, p = 4.6 × 10-8), breast and ovarian cancer (rg = 0.24, p = 7 × 10-5), breast and lung cancer (rg = 0.18, p =1.5 × 10-6) and breast and colorectal cancer (rg = 0.15, p = 1.1 × 10-4). We also found that multiple cancers are genetically correlated with non-cancer traits including smoking, psychiatric diseases and metabolic characteristics. Functional enrichment analysis revealed a significant excess contribution of conserved and regulatory regions to cancer heritability. Our comprehensive analysis of cross-cancer heritability suggests that solid tumors arising across tissues share in part a common germline genetic basis.

36. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Author: Figlioli, Gisella, Bogliolo, Massimo, Catucci, Irene, Caleca, Laura, Lasheras, Sandra Viz, Pujol, Roser, Kiiski, Johanna I, Muranen, Taru A, Barnes, Daniel R, Dennis, Joe, Michailidou, Kyriaki, Bolla, Manjeet K, Leslie, Goska, Aalfs, Cora M, ABCTB Investigators, Adank, Muriel A, Adlard, Julian, Agata, Simona, Cadoo, Karen, Agnarsson, Bjarni A, Ahearn, Thomas, Aittomäki, Kristiina, Ambrosone, Christine B, Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Arun, Banu K, Asseryanis, Ella, Auber, Bernd, Auvinen, Päivi, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barrowdale, Daniel, Barwell, Julian, Beane Freeman, Laura E, Beauparlant, Charles Joly, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Anders, Bojesen, Stig E, Bonanni, Bernardo, Borg, Ake, Brady, Angela F, Brauch, Hiltrud, Brenner, Hermann, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A, Campa, Daniele, Campbell, Ian G, Canzian, Federico, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Claes, Kathleen BM, Clarke, Christine L, Collavoli, Anita, Conner, Thomas A, Cox, David G, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, De La Hoya, Miguel, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S, Ditsch, Nina, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Foulkes, William D, Friebel, Tara M, Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Gago-Dominguez, Manuela, Gao, Chi, Gapstur, Susan M, Garber, Judy, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, Gayther, Simon A, GEMO Study Collaborators, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, Guénel, Pascal, Gutierrez-Barrera, Angelica M, Haeberle, Lothar, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A, Hein, Alexander, Heyworth, Jane, Hillemanns, Peter, Hollestelle, Antoinette, Hopper, John L, Hosgood, H Dean, Howell, Anthony, Hu, Chunling, Hulick, Peter J, Hunter, David J, Imyanitov, Evgeny N, KConFab, Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Karlan, Beth Y, Khusnutdinova, Elza, Kitahara, Cari M, Konstantopoulou, Irene, Koutros, Stella, Kraft, Peter, Lambrechts, Diether, Lazaro, Conxi, Le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lilyquist, Jenna, Loud, Jennifer T, Lu, Karen H, Luben, Robert N, Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martens, John WM, Maurer, Tabea, Mavroudis, Dimitrios, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Montagna, Marco, Nathanson, Katherine L, Neuhausen, Susan L, Newman, William G, Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Nielsen, Sarah, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olshan, Andrew F, Olson, Janet E, Olsson, Håkan, Osorio, Ana, Ottini, Laura, Peissel, Bernard, Peixoto, Ana, Peto, Julian, Plaseska-Karanfilska, Dijana, Pocza, Timea, Presneau, Nadege, Pujana, Miquel Angel, Punie, Kevin, Rack, Brigitte, Rantala, Johanna, Rashid, Muhammad U, Rau-Murthy, Rohini, Rennert, Gad, Lejbkowicz, Flavio, Rhenius, Valerie, Romero, Atocha, Rookus, Matti A, Ross, Eric A, Rossing, Maria, Rudaitis, Vilius, Ruebner, Matthias, Saloustros, Emmanouil, Sanden, Kristin, Santamariña, Marta, Scheuner, Maren T, Schmutzler, Rita K, Schneider, Michael, Scott, Christopher, Senter, Leigha, Shah, Mitul, Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F, Sohn, Christof, Soucy, Penny, Southey, Melissa C, Spinelli, John J, Steele, Linda, Stoppa-Lyonnet, Dominique, Tapper, William J, Teixeira, Manuel R, Terry, Mary Beth, Thomassen, Mads, Thompson, Jennifer, Thull, Darcy L, Tischkowitz, Marc, Tollenaar, Rob AEM, Torres, Diana, Troester, Melissa A, Truong, Thérèse, Tung, Nadine, Untch, Michael, Vachon, Celine M, Van Rensburg, Elizabeth J, Van Veen, Elke M, Vega, Ana, Viel, Alessandra, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Wendt, Camilla, Wieme, Greet, Wolk, Alicja, Yang, Xiaohong R, Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K, Dunning, Alison M, Lush, Michael, Wang, Qin, McGuffog, Lesley, Parsons, Michael T, Pharoah, Paul DP, Fostira, Florentia, Toland, Amanda E, Andrulis, Irene L, Ramus, Susan J, Swerdlow, Anthony J, Greene, Mark H, Chung, Wendy K, Milne, Roger L, Chenevix-Trench, Georgia, Dörk, Thilo, Schmidt, Marjanka K, Easton, Douglas F, Radice, Paolo, Hahnen, Eric, Antoniou, Antonis C, Couch, Fergus J, Nevanlinna, Heli, Surrallés, Jordi, and Peterlongo, Paolo
Subjects: nutritional and metabolic diseases, skin and connective tissue diseases, Cancer genetics, 3. Good health
Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM -/- patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors.

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