Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.


Couch, FJ; Kuchenbaecker, KB; Michailidou, K; Mendoza-Fandino, GA; Nord, S; Lilyquist, J; Olswold, C; Hallberg, E; Agata, S; Ahsan, H; Aittomäki, K; Ambrosone, C; Andrulis, IL; Anton-Culver, H; Arndt, V; Arun, BK; Arver, B; Barile, M; Barkardottir, RB; Barrowdale, D; Beckmann, L; Beckmann, MW; 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, KB; 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, PA; Figueroa, J; Flesch-Janys, D; Försti, 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; González-Neira, A; Greene, MH; Gronwald, J; Guénel, P; Gunter, M; Haeberle, L; Haiman, CA; Hamann, U; Hansen, TV; Hart, S; Healey, S; Heikkinen, T; Henderson, BE; Herzog, J; Hogervorst, FB; 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, JW; 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; Pylkäs, 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, RA; Tomlinson, I; Truong, T; Tsimiklis, H; Teulé, A; Tumino, R; Tung, N; Turnbull, C; Ursin, G; van Deurzen, CH; 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, PD; Monteiro, AA; García-Closas, M; Easton, DF; Antoniou, AC; (2016) Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nature communications, 7. p. 11375. ISSN 2041-1723 DOI: https://doi.org/10.1038/ncomms11375

[img]
Preview
Text - Published Version
License:

Download (1MB) | Preview

Abstract

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.

Item Type: Article
Faculty and Department: Faculty of Epidemiology and Population Health > Dept of Non-Communicable Disease Epidemiology
Research Centre: Centre for Global Non-Communicable Diseases (NCDs)
Related URLs:
PubMed ID: 27117709
Web of Science ID: 374894400001
URI: http://researchonline.lshtm.ac.uk/id/eprint/2548520

Statistics


Download activity - last 12 months
Downloads since deposit
27Downloads
68Hits
Accesses by country - last 12 months
Accesses by referrer - last 12 months
Impact and interest
Additional statistics for this record are available via IRStats2

Actions (login required)

Edit Item Edit Item