Couch FJ, Kuchenbaecker KB, Michailidou K, Mendoza-Fandino GA, Nord S, Lilyquist J, Olswold C, Hallberg E, Agata S, Ahsan H, Aittomaeki K, Ambrosone C, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Barile M, Barkardottir RB, Barrowdale D, Beckmann L, Beckmann M, Benitez J, Blank SV, Blomqvist C, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldes T, Caligo MA, Canzian F, Carpenter J, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Cox A, Cross SS, Cunningham JM, Czene K, Daly MB, Damiola F, Darabi H, De La Hoya M, Devilee P, Diez O, Ding YC, Dolcetti R, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Dumont M, Dunning AM, Eccles DM, Ehrencrona H, Ekici AB, Eliassen H, Ellis S, Fasching P, Figueroa J, Flesch-Janys D, Foersti A, Fostira F, Foulkes WD, Friebel T, Friedman E, Frost D, Gabrielson M, Gammon MD, Ganz PA, Gapstur SM, Garber J, Gaudet MM, Gayther SA, Gerdes AM, Ghoussaini M, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Gonzalez-Neira A, Greene MH, Gronwald J, Guenel P, Gunter M, Haeberle L, Haiman CA, Hamann U, Hansen TVO, Hart S, Healey S, Heikkinen T, Henderson BE, Herzog J, Hogervorst FBL, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Humphreys K, Hunter DJ, Huzarski T, Imyanitov EN, Isaacs C, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Jones M, Kabisch M, Kar S, Karlan BY, Khan S, Khaw KT, Kibriya MG, Knight JA, Ko YD, Konstantopoulou I, Kosma VM, Kristensen V, Kwong A, Laitman Y, Lambrechts D, Lazaro C, Lee E, Le Marchand L, Lester J, Lindblom A, Lindor N, Lindstrom S, Liu J, Long J, Lubinski J, Mai PL, Makalic E, Malone KE, Mannermaa A, Manoukian S, Margolin S, Marme F, Martens JWM, Mcguffog L, Meindl A, Miller A, Milne RL, Miron P, Montagna M, Mazoyer S, Mulligan AM, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Nordestgaard BG, Nussbaum RL, Offit K, Olah E, Olopade OI, Olson JE, Osorio A, Park SK, Peeters PH, Peissel B, Peterlongo P, Peto J, Phelan CM, Pilarski R, Poppe B, Pylkaes K, Radice P, Rahman N, Rantala J, Rappaport C, Rennert G, Richardson A, Robson M, Romieu I, Rudolph A, Rutgers EJ, Sanchez MJ, Santella RM, Sawyer EJ, Schmidt DF, Schmidt MK, Schmutzler RK, Schumacher F, Scott R, Senter L, Sharma P, Simard J, Singer CF, Sinilnikova OM, Soucy P, Southey M, Steinemann D, Stenmark-Askmalm M, Stoppa-Lyonnet D, Swerdlow A, Szabo CI, Tamimi R, Tapper W, Teixeira MR, Teo SH, Terry MB, Thomassen M, Thompson D, Tihomirova L, Toland AE, Tollenaar RAEM, Tomlinson I, Truong T, Tsimiklis H, Teule A, Tumino R, Tung N, Turnbull C, Ursin G, Van Deurzen CHM, Van Rensburg EJ, Varon-Mateeva R, Wang Z, Wang-Gohrke S, Weiderpass E, Weitzel JN, Whittemore A, Wildiers H, Winqvist R, Yang XR, Yannoukakos D, Yao S, Zamora MP, Zheng W, Hall P, Kraft P, Vachon C, Slager S, Chenevix-Trench G, Pharoah PDP, Monteiro AAN, Garcia-Closas M, Easton DF, Antoniou AC (2016)
Publication Type: Journal article
Publication year: 2016
Book Volume: 7
Pages Range: 11375
DOI: 10.1038/ncomms11375
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for ~11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.
APA:
Couch, F.J., Kuchenbaecker, K.B., Michailidou, K., Mendoza-Fandino, G.A., Nord, S., Lilyquist, J.,... Antoniou, A.C. (2016). Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nature Communications, 7, 11375. https://doi.org/10.1038/ncomms11375
MLA:
Couch, Fergus J., et al. "Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer." Nature Communications 7 (2016): 11375.
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