دورية أكاديمية

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

التفاصيل البيبلوغرافية
العنوان: Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
المؤلفون: 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, Investigators,, Abctb, 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, 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, Collaborators,, Gemo Study, Georgoulias, V, Gerdes, A-M, Giles, GG, Glendon, G, Godwin, AK, Goldberg, MS, Goldgar, DE, González-Neira, A, Goodfellow, P, Greene, MH, Alnæs, GIG, 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, Investigators,, Kconfab/Aocs, 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, Kostovska, IM, 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, Collaborators,, Nbsc, 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
بيانات النشر: Springer Nature
سنة النشر: 2019
المجموعة: Oxford University Research Archive (ORA)
الوصف: Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease1. 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.
نوع الوثيقة: article in journal/newspaper
اللغة: English
العلاقة: https://ora.ox.ac.uk/objects/uuid:26eac704-6ac0-4dea-837b-1f65f56d77d7Test; https://doi.org/10.1038/ng.3785Test
DOI: 10.1038/ng.3785
الإتاحة: https://doi.org/10.1038/ng.3785Test
https://ora.ox.ac.uk/objects/uuid:26eac704-6ac0-4dea-837b-1f65f56d77d7Test
حقوق: info:eu-repo/semantics/embargoedAccess
رقم الانضمام: edsbas.61F69D9B
قاعدة البيانات: BASE