Accès ouvert déclaré
2020
article
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
J Coignard, M Lush, J Beesley, TA O'Mara, J Dennis, JP Tyrer, DR Barnes, L McGuffog, G Leslie, MK Bolla, MA Adank, S Agata, T Ahearn, K Aittomäki, IL Andrulis, H Anton-Culver, V Arndt, N Arnold, KJ Aronson, BK Arun, A Augustinsson, J Azzollini, D Barrowdale, C Baynes, H Becher, M Bermisheva, L Bernstein, K Białkowska, C Blomqvist, SE Bojesen, B Bonanni, A Borg, H Brauch, H Brenner, B Burwinkel, SS Buys, T Caldés, MA Caligo, D Campa, BD Carter, JE Castelao, J Chang-Claude, SJ Chanock, WK Chung, KBM Claes, CL Clarke, GEMO Study Collaborators, EMBRACE Collaborators, JM Collée, DM Conroy, K Czene, MB Daly, P Devilee, O Diez, YC Ding, S. Domchek, T Dörk, I Dos-Santos-Silva, AM Dunning, M Dwek, DM Eccles, AH Eliassen, C Engel, M Eriksson, DG Evans, PA Fasching, H Flyger, F Fostira, E Friedman, L Fritschi, D Frost, M Gago-Dominguez, SM Gapstur, J Garber, V Garcia-Barberan, M García-Closas, JA García-Sáenz, MM Gaudet, SA Gayther, A Gehrig, V Georgoulias, GG Giles, AK Godwin, MS Goldberg, DE Goldgar, A González-Neira, MH Greene, P Guénel, L Haeberle, E Hahnen, CA Haiman, N Håkansson, P Hall, U Hamann, PA Harrington, SN Hart, W He, FBL Hogervorst, A Hollestelle, JL Hopper, DJ Horcasitas, PJ Hulick, DJ Hunter, EN Imyanitov, KConFab Investigators, Hebon Investigators, ABCTB Investigators, A Jager, A Jakubowska, PA James, UB Jensen, EM John, ME Jones, R Kaaks, PM Kapoor, BY Karlan, R Keeman, E Khusnutdinova, JI Kiiski, Y-D Ko, V-M Kosma, P Kraft, AW Kurian, Y Laitman, D Lambrechts, L Le Marchand, J Lester, F Lesueur, T Lindstrom, A Lopez-Fernández, JT Loud, C Luccarini, A Mannermaa, S Manoukian, S Margolin, JWM Martens, N Mebirouk, A Meindl, A Miller, RL Milne, M Montagna, KL Nathanson, SL Neuhausen, H Nevanlinna, FC Nielsen, KM O’Brien, OI Olopade, JE Olson, H Olsson, A Osorio, L Ottini, TW Park-Simon, MT Parsons, IS Pedersen, B Peshkin, P Peterlongo, J Peto, PDP Pharoah, Kelly‐Anne Phillips, EC Polley, B Poppe, N Presneau, MA Pujana, K Punie, P Radice, J Rantala, MU Rashid, G Rennert, HS Rennert, M Robson, A Romero, M Rossing, E Saloustros, DP Sandler, R Santella, MT Scheuner, MK Schmidt, G Schmidt, C Scott, P Sharma, P Soucy, MC Southey, JJ Spinelli, Z Steinsnyder, J Stone, D Stoppa-Lyonnet, A Swerdlow, RM Tamimi, WJ Tapper, JA Taylor, MB Terry, A Teulé, DL Thull, M Tischkowitz, AE Toland, D Torres, AH Trainer, T Truong, N Tung, CM Vachon, A Vega, J Vijai, Q Wang, B Wappenschmidt, CR Weinberg, JN Weitzel, C Wendt, A Wolk, S Yadav, Xr Yang, D Yannoukakos, W Zheng, A Ziogas, KK Zorn, SK Park, M Thomassen, K Offit, RK Schmutzler, FJ Couch, J Simard, G Chenevix-Trench, DF Easton, N Andrieu, AC Antoniou
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Le résumé fourni par la source
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
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
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Les sujets associés
BRCA gene mutations in cancerGenetic factors in colorectal cancerGenetic Associations and Epidemiology