Milne, RL;
Kuchenbaecker, KB;
Michailidou, K;
Beesley, J;
Kar, S;
Lindström, S;
Hui, S;
Lemaçon, A;
Soucy, P;
Dennis, J;
et al.
Milne, RL; Kuchenbaecker, KB; Michailidou, K; Beesley, J; Kar, S; Lindström, S; Hui, S; Lemaçon, A; Soucy, P; Dennis, J; Jiang, X; Rostamianfar, A; Finucane, H; Bolla, MK; McGuffog, L; Wang, Q; Aalfs, CM; ABCTB Investigators; Adams, M; Adlard, J; Agata, S; Ahmed, S; Ahsan, H; Aittomäki, K; Al-Ejeh, F; Allen, J; Ambrosone, CB; Amos, CI; Andrulis, IL; Anton-Culver, H; Antonenkova, NN; Arndt, V; Arnold, N; Aronson, KJ; Auber, B; Auer, PL; Ausems, MGEM; Azzollini, J; Bacot, F; Balmaña, J; Barile, M; Barjhoux, L; Barkardottir, RB; Barrdahl, M; Barnes, D; Barrowdale, D; Baynes, C; Beckmann, MW; Benitez, J; Bermisheva, M; Bernstein, L; Bignon, Y-J; Blazer, KR; Blok, MJ; Blomqvist, C; Blot, W; Bobolis, K; Boeckx, B; Bogdanova, NV; Bojesen, A; Bojesen, SE; Bonanni, B; Børresen-Dale, A-L; Bozsik, A; Bradbury, AR; Brand, JS; Brauch, H; Brenner, H; Bressac-de Paillerets, B; Brewer, C; Brinton, L; Broberg, P; Brooks-Wilson, A; Brunet, J; Brüning, T; Burwinkel, B; Buys, SS; Byun, J; Cai, Q; Caldés, T; Caligo, MA; Campbell, I; Canzian, F; Caron, O; Carracedo, A; Carter, BD; Castelao, JE; Castera, L; Caux-Moncoutier, V; Chan, SB; Chang-Claude, J; Chanock, SJ; Chen, X; Cheng, T-YD; Chiquette, J; Christiansen, H; Claes, KBM; Clarke, CL; Conner, T; Conroy, DM; Cook, J; Cordina-Duverger, E; Cornelissen, S; Coupier, I; Cox, A; Cox, DG; Cross, SS; Cuk, K; Cunningham, JM; Czene, K; Daly, MB; Damiola, F; Darabi, H; Davidson, R; De Leeneer, K; Devilee, P; Dicks, E; Diez, O; Ding, YC; Ditsch, N; Doheny, KF; Domchek, SM; Dorfling, CM; Dörk, T; Dos-Santos-Silva, I; Dubois, S; Dugué, P-A; Dumont, M; Dunning, AM; Durcan, L; Dwek, M; Dworniczak, B; Eccles, D; Eeles, R; Ehrencrona, H; Eilber, U; Ejlertsen, B; Ekici, AB; Eliassen, AH; EMBRACE; Engel, C; Eriksson, M; Fachal, L; Faivre, L; Fasching, PA; Faust, U; Figueroa, J; Flesch-Janys, D; Fletcher, O; Flyger, H; Foulkes, WD; Friedman, E; Fritschi, L; Frost, D; Gabrielson, M; Gaddam, P; Gammon, MD; Ganz, PA; Gapstur, SM; Garber, J; Garcia-Barberan, V; García-Sáenz, JA; Gaudet, MM; Gauthier-Villars, M; Gehrig, A; GEMO Study Collaborators; Georgoulias, V; Gerdes, A-M; Giles, GG; Glendon, G; Godwin, AK; Goldberg, MS; Goldgar, DE; González-Neira, A; Goodfellow, P; Greene, MH; Grenaker Alnæs, GI; Grip, M; Gronwald, J; Grundy, A; Gschwantler-Kaulich, D; Guénel, P; Guo, Q; Haeberle, L; Hahnen, E; Haiman, CA; Håkansson, N; Hallberg, E; Hamann, U; Hamel, N; Hankinson, S; Hansen, TVO; Harrington, P; Hart, SN; Hartikainen, JM; Healey, CS; HEBON; Hein, A; Helbig, S; Henderson, A; Heyworth, J; Hicks, B; Hillemanns, P; Hodgson, S; Hogervorst, FB; Hollestelle, A; Hooning, MJ; Hoover, B; Hopper, JL; Hu, C; Huang, G; Hulick, PJ; Humphreys, K; Hunter, DJ; Imyanitov, EN; Isaacs, C; Iwasaki, M; Izatt, L; Jakubowska, A; James, P; Janavicius, R; Janni, W; Jensen, UB; John, EM; Johnson, N; Jones, K; Jones, M; Jukkola-Vuorinen, A; Kaaks, R; Kabisch, M; Kaczmarek, K; Kang, D; Kast, K; kConFab/AOCS Investigators; Keeman, R; Kerin, MJ; Kets, CM; Keupers, M; Khan, S; Khusnutdinova, E; Kiiski, JI; Kim, S-W; Knight, JA; Konstantopoulou, I; Kosma, V-M; Kristensen, VN; Kruse, TA; Kwong, A; Lænkholm, A-V; Laitman, Y; Lalloo, F; Lambrechts, D; Landsman, K; Lasset, C; Lazaro, C; Le Marchand, L; Lecarpentier, J; Lee, A; Lee, E; Lee, JW; Lee, MH; Lejbkowicz, F; Lesueur, F; Li, J; Lilyquist, J; Lincoln, A; Lindblom, A; Lissowska, J; Lo, W-Y; Loibl, S; Long, J; Loud, JT; Lubinski, J; Luccarini, C; Lush, M; MacInnis, RJ; Maishman, T; Makalic, E; Maleva Kostovska, I; Malone, KE; Manoukian, S; Manson, JE; Margolin, S; Martens, JWM; Martinez, ME; Matsuo, K; Mavroudis, D; Mazoyer, S; McLean, C; Meijers-Heijboer, H; Menéndez, P; Meyer, J; Miao, H; Miller, A; Miller, N; Mitchell, G; Montagna, M; Muir, K; Mulligan, AM; Mulot, C; Nadesan, S; Nathanson, KL; NBSC Collaborators; Neuhausen, SL; Nevanlinna, H; Nevelsteen, I; Niederacher, D; Nielsen, SF; Nordestgaard, BG; Norman, A; Nussbaum, RL; Olah, E; Olopade, OI; Olson, JE; Olswold, C; Ong, K-R; Oosterwijk, JC; Orr, N; Osorio, A; Pankratz, VS; Papi, L; Park-Simon, T-W; Paulsson-Karlsson, Y; Lloyd, R; Pedersen, IS; Peissel, B; Peixoto, A; Perez, JIA; Peterlongo, P; Peto, J; Pfeiler, G; Phelan, CM; Pinchev, M; Plaseska-Karanfilska, D; Poppe, B; Porteous, ME; Prentice, R; Presneau, N; Prokofieva, D; Pugh, E; Pujana, MA; Pylkäs, K; Rack, B; Radice, P; Rahman, N; Rantala, J; Rappaport-Fuerhauser, C; Rennert, G; Rennert, HS; Rhenius, V; Rhiem, K; Richardson, A; Rodriguez, GC; Romero, A; Romm, J; Rookus, MA; Rudolph, A; Ruediger, T; Saloustros, E; Sanders, J; Sandler, DP; Sangrajrang, S; Sawyer, EJ; Schmidt, DF; Schoemaker, MJ; Schumacher, F; Schürmann, P; Schwentner, L; Scott, C; Scott, RJ; Seal, S; Senter, L; Seynaeve, C; Shah, M; Sharma, P; Shen, C-Y; Sheng, X; Shimelis, H; Shrubsole, MJ; Shu, X-O; Side, LE; Singer, CF; Sohn, C; Southey, MC; Spinelli, JJ; Spurdle, AB; Stegmaier, C; Stoppa-Lyonnet, D; Sukiennicki, G; Surowy, H; Sutter, C; Swerdlow, A; Szabo, CI; Tamimi, RM; Tan, YY; Taylor, JA; Tejada, M-I; Tengström, M; Teo, SH; Terry, MB; Tessier, DC; Teulé, A; Thöne, K; Thull, DL; Tibiletti, MG; Tihomirova, L; Tischkowitz, M; Toland, AE; Tollenaar, RAEM; Tomlinson, I; Tong, L; Torres, D; Tranchant, M; Truong, T; Tucker, K; Tung, N; Tyrer, J; Ulmer, H-U; Vachon, C; van Asperen, CJ; Van Den Berg, D; van den Ouweland, AMW; van Rensburg, EJ; Varesco, L; Varon-Mateeva, R; Vega, A; Viel, A; Vijai, J; Vincent, D; Vollenweider, J; Walker, L; Wang, Z; Wang-Gohrke, S; Wappenschmidt, B; Weinberg, CR; Weitzel, JN; Wendt, C; Wesseling, J; Whittemore, AS; Wijnen, JT; Willett, W; Winqvist, R; Wolk, A; Wu, AH; Xia, L; Yang, XR; Yannoukakos, D; Zaffaroni, D; Zheng, W; Zhu, B; Ziogas, A; Ziv, E; Zorn, KK; Gago-Dominguez, M; Mannermaa, A; Olsson, H; Teixeira, MR; Stone, J; Offit, K; Ottini, L; Park, SK; Thomassen, M; Hall, P; Meindl, A; Schmutzler, RK; Droit, A; Bader, GD; Pharoah, PDP; Couch, FJ; Easton, DF; Kraft, P; Chenevix-Trench, G; García-Closas, M; Schmidt, MK; Antoniou, AC; Simard, J
(2017)
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Nat Genet, 49 (12).
pp. 1767-1778.
ISSN 1546-1718
https://doi.org/10.1038/ng.3785
SGUL Authors: Hodgson, Shirley Victoria
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Abstract
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10(-8) with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.
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