2024-03-28T19:48:29Zhttp://repisalud.isciii.es/oai/requestoai:repisalud.isciii.es:20.500.12105/132402023-10-05T09:28:07Zcom_20.500.12105_15322com_20.500.12105_2051com_20.500.12105_2174com_20.500.12105_2173col_20.500.12105_16969col_20.500.12105_2175
00925njm 22002777a 4500
dc
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
author
2021-02-17
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.
Nat Commun. 2021;12(1):1078.
http://hdl.handle.net/20.500.12105/13240
33597508
10.1038/s41467-020-20496-3
2041-1723
Nature communications
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.