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Repisalud author Coignard, Juliette author Lush, Michael author Beesley, Jonathan author O'Mara, Tracy A author Dennis, Joe author Tyrer, Jonathan P author Barnes, Daniel R author McGuffog, Lesley author Leslie, Goska author Bolla, Manjeet K author Adank, Muriel A author Agata, Simona author Ahearn, Thomas author Aittomäki, Kristiina author Andrulis, Irene L author Anton-Culver, Hoda author Arndt, Volker author Arnold, Norbert author Aronson, Kristan J author Arun, Banu K author Augustinsson, Annelie author Azzollini, Jacopo author Barrowdale, Daniel author Baynes, Caroline author Becher, Heiko author Bermisheva, Marina author Bernstein, Leslie author Białkowska, Katarzyna author Blomqvist, Carl author Bojesen, Stig E author Bonanni, Bernardo author Borg, Ake author Brauch, Hiltrud author Brenner, Hermann author Burwinkel, Barbara author Buys, Saundra S author Caldés, Trinidad author Caligo, Maria A author Campa, Daniele author Carter, Brian D author Castelao, Jose E author Chang-Claude, Jenny author Chanock, Stephen J author Chung, Wendy K author Claes, Kathleen B M author Clarke, Christine L author Collée, J Margriet author Conroy, Don M author Czene, Kamila author Daly, Mary B author Devilee, Peter author Diez, Orland author Ding, Yuan Chun author Domchek, Susan M author Dörk, Thilo author Dos-Santos-Silva, Isabel author Dunning, Alison M author Dwek, Miriam author Eccles, Diana M author Eliassen, A Heather author Engel, Christoph author Eriksson, Mikael author Evans, D Gareth author Fasching, Peter A author Flyger, Henrik author Fostira, Florentia author Friedman, Eitan author Fritschi, Lin author Frost, Debra author Gago-Dominguez, Manuela author Gapstur, Susan M author Garber, Judy author Garcia-Barberan, Vanesa author García-Closas, Montserrat author García-Sáenz, José A author Gaudet, Mia M author Gayther, Simon A author Gehrig, Andrea author Georgoulias, Vassilios author Giles, Graham G author Godwin, Andrew K author Goldberg, Mark S author Goldgar, David E author Gonzalez Neira, Anna author Greene, Mark H author Guénel, Pascal author Haeberle, Lothar author Hahnen, Eric author Haiman, Christopher A author Håkansson, Niclas author Hall, Per author Hamann, Ute author Harrington, Patricia A author Hart, Steven N author He, Wei author Hogervorst, Frans B L author Hollestelle, Antoinette author Hopper, John L author Horcasitas, Darling J author Hulick, Peter J author Hunter, David J author Imyanitov, Evgeny N author Jager, Agnes author Jakubowska, Anna author James, Paul A author Jensen, Uffe Birk author John, Esther M author Jones, Michael E author Kaaks, Rudolf author Kapoor, Pooja Middha author Karlan, Beth Y author Keeman, Renske author Khusnutdinova, Elza author Kiiski, Johanna I author Ko, Yon-Dschun author Kosma, Veli-Matti author Kraft, Peter author Kurian, Allison W author Laitman, Yael author Lambrechts, Diether author Le Marchand, Loic author Lester, Jenny author Lesueur, Fabienne author Lindstrom, Tricia author Lopez-Fernández, Adria author Loud, Jennifer T author Luccarini, Craig author Mannermaa, Arto author Manoukian, Siranoush author Margolin, Sara author Martens, John W M author Mebirouk, Noura author Meindl, Alfons author Miller, Austin author Milne, Roger L author Montagna, Marco author Nathanson, Katherine L author Neuhausen, Susan L author Nevanlinna, Heli author Nielsen, Finn C author O'Brien, Katie M author Olopade, Olufunmilayo I author Olson, Janet E author Olsson, Håkan author Osorio, Ana author Ottini, Laura author Park-Simon, Tjoung-Won author Parsons, Michael T author Pedersen, Inge Sokilde author Peshkin, Beth author Peterlongo, Paolo author Peto, Julian author Pharoah, Paul D P author Phillips, Kelly-Anne author Polley, Eric C author Poppe, Bruce author Presneau, Nadege author Pujana, Miquel Angel author Punie, Kevin author Radice, Paolo author Rantala, Johanna author Rashid, Muhammad U author Rennert, Gad author Rennert, Hedy S author Robson, Mark author Romero, Atocha author Rossing, Maria author Saloustros, Emmanouil author Sandler, Dale P author Santella, Regina author Scheuner, Maren T author Schmidt, Marjanka K author Schmidt, Gunnar author Scott, Christopher author Sharma, Priyanka author Soucy, Penny author Southey, Melissa C author Spinelli, John J author Steinsnyder, Zoe author Stone, Jennifer author Stoppa-Lyonnet, Dominique author Swerdlow, Anthony author Tamimi, Rulla M author Tapper, William J author Taylor, Jack A author Terry, Mary Beth author Teulé, Alex author Thull, Darcy L author Tischkowitz, Marc author Toland, Amanda E author Torres, Diana author Trainer, Alison H author Truong, Thérèse author Tung, Nadine author Vachon, Celine M author Vega, Ana author Vijai, Joseph author Wang, Qin author Wappenschmidt, Barbara author Weinberg, Clarice R author Wendt, Camilla author Weitzel, Jeffrey N author Wolk, Alicja author Yadav, Siddhartha author Yang, Xiaohong R author Yannoukakos, Drakoulis author Zheng, Wei author Ziogas, Argyrios author Zorn, Kristin K author Park, Sue K author Thomassen, Mads author Offit, Kenneth author Schmutzler, Rita K author Couch, Fergus J author Simard, Jacques author Chenevix-Trench, Georgia author Easton, Douglas F author Andrieu, Nadine author Antoniou, Antonis C funder German Cancer Research Center funder National Health and Medical Research Council (Australia) funder United States Department of Health and Human Services funder National Institute for Health Research (Reino Unido) funder French National Cancer Institute funder Ligue Nationale Contre le Cancer (Francia) funder Cancer Research UK (Reino Unido) funder Unión Europea. Comisión Europea funder Canadian Institutes of Health Research funder Cancer Council New South Wales (Australia) funder Dutch Cancer Society (Holanda) funder Instituto de Salud Carlos III funder Xunta de Galicia (España) funder Ministerio de Sanidad, Política Social e Igualdad (España) funder Helmholtz Association funder California Breast Cancer Research Program funder Federal Ministry of Education & Research (Alemania) funder Government of Netherlands funder Russian Foundation for Basic Research 2021-07-08T15:24:23Z 2021-07-08T15:24:23Z 2021-02-17 Nat Commun. 2021;12(1):1078. 10.1038/s41467-020-20496-3 2041-1723 Nature communications 33597508 http://hdl.handle.net/20.500.12105/13240 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. eng A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. journal article 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 URL https://repisalud.isciii.es/bitstreams/88d35015-4704-4682-8789-b11879b1d9df/download File MD5 ebabc3b2f095fe23d5b6370a17cd62e1 3821260 application/pdf acaseonlystudy-2021.pdf URL https://repisalud.isciii.es/bitstreams/7f45cf73-79aa-4ed2-b921-4fce72558385/download File MD5 aa40f21d278de1c919f05004b4740436 171370 text/plain acaseonlystudy-2021.pdf.txt