| Authors: |
Couch, F. J.; Kuchenbaecker, K. B.; Michailidou, K.; Mendoza-Fandino, G. A.; Nord, S.; Lilyquist, J.; Olswold, C.; Hallberg, E.; Agata, S.; Ahsan, H.; Aittomäki, K.; Ambrosone, C.; Andrulis, I. L.; Anton-Culver, H.; Arndt, V.; Arun, B. K.; Arver, B.; Barile, M.; Barkardottir, R. B.; Barrowdale, D.; Beckmann, L.; Beckmann, M. W.; Benitez, J.; Blank, S. V.; Blomqvist, C.; Bogdanova, N. V.; Bojesen, S. E.; Bolla, M. K.; Bonanni, B.; Brauch, H.; Brenner, H.; Burwinkel, B.; Buys, S. S.; Caldes, T.; Caligo, M. A.; Canzian, F.; Carpenter, J.; Chang-Claude, J.; Chanock, S. J.; Chung, W. K.; Claes, K. B. M.; Cox, A.; Cross, S. S.; Cunningham, J. M.; Czene, K.; Daly, M. B.; Damiola, F.; Darabi, H.; De La Hoya, M.; Devilee, P.; Diez, O.; Ding, Y. C.; Dolcetti, R.; Domchek, S. M.; Dorfling, C. M.; Dos-Santos-Silva, I.; Dumont, M.; Dunning, A. M.; Eccles, D. M.; Ehrencrona, H.; Ekici, A. B.; Eliassen, H.; Ellis, S.; Fasching, P. A.; Figueroa, J.; Flesch-Janys, D.; Försti, A.; Fostira, F.; Foulkes, W. D.; Friebel, T.; Friedman, E.; Frost, D.; Gabrielson, M.; Gammon, M. D.; Ganz, P. A.; Gapstur, S. M.; Garber, J.; Gaudet, M. M.; Gayther, S. A.; Gerdes, A. M.; Ghoussaini, M.; Giles, G. G.; Glendon, G.; Godwin, A. K.; Goldberg, M. S.; Goldgar, D. E.; González-Neira, A.; Greene, M. H.; Gronwald, J.; Guénel, P.; Gunter, M.; Haeberle, L.; Haiman, C. A.; Hamann, U.; Hansen, T. V. O.; Hart, S.; Healey, S.; Heikkinen, T.; Henderson, B. E.; Herzog, J.; Hogervorst, F. B. L.; Hollestelle, A.; Hooning, M. J.; Hoover, R. N.; Hopper, J. L.; Humphreys, K.; Hunter, D. J.; Huzarski, T.; Imyanitov, E. N.; Isaacs, C.; Jakubowska, A.; James, P.; Janavicius, R.; Jensen, U. B.; John, E. M.; Jones, M.; Kabisch, M.; Kar, S.; Karlan, B. Y.; Khan, S.; Khaw, K. T.; Kibriya, M. G.; Knight, J. A.; Ko, Y. D.; Konstantopoulou, I.; Kosma, V. M.; 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, P. L.; Makalic, E.; Malone, K. E.; Mannermaa, A.; Manoukian, S.; Margolin, S.; Marme, F.; Martens, J. W. M.; McGuffog, L.; Meindl, A.; Miller, A.; Milne, R. L.; Miron, P.; Montagna, M.; Mazoyer, S.; Mulligan, A. M.; Muranen, T. A.; Nathanson, K. L.; Neuhausen, S. L.; Nevanlinna, H.; Nordestgaard, Bø G.; Nussbaum, R. L.; Offit, K.; Olah, E.; Olopade, O. I.; Olson, J. E.; Osorio, A.; Park, S. K.; Peeters, P. H.; Peissel, B.; Peterlongo, P.; Peto, J.; Phelan, C. M.; 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, E. J.; Sanchez, M. J.; Santella, R. M.; Sawyer, E. J.; Schmidt, D. F.; Schmidt, M. K.; Schmutzler, R. K.; Schumacher, F.; Scott, R.; Senter, L.; Sharma, P.; Simard, J.; Singer, C. F.; Sinilnikova, O. M.; Soucy, P.; Southey, M.; Steinemann, D.; Stenmark-Askmalm, M.; Stoppa-Lyonnet, D.; Swerdlow, A.; Szabo, C. I.; Tamimi, R.; Tapper, W.; Teixeira, M. R.; Teo, S. H.; Terry, M. B.; Thomassen, M.; Thompson, D.; Tihomirova, L.; Toland, A. E.; Tollenaar, R. A. E. M.; Tomlinson, I.; Truong, T.; Tsimiklis, H.; Teulé, A.; Tumino, R.; Tung, N.; Turnbull, C.; Ursin, G.; Van Deurzen, C. H. M.; Van Rensburg, E. J.; Varon-Mateeva, R.; Wang, Z.; Wang-Gohrke, S.; Weiderpass, E.; Weitzel, J. N.; Whittemore, A.; Wildiers, H.; Winqvist, R.; Yang, X. R.; Yannoukakos, D.; Yao, S.; Zamora, M. P.; Zheng, W.; Hall, P.; Kraft, P.; Vachon, C.; Slager, S.; Chenevix-Trench, G.; Pharoah, P. D. P.; Monteiro, A. A. N.; García-Closas, M.; Easton, D. F.; Antoniou, A. C. |
| Article Title: |
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer |
| 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. |
| Journal Title: |
Nature Communications
|
| Volume: |
7 |
| ISSN: |
2041-1723 |
| Publisher: |
Nature Publishing Group
|
| Date Published: |
2016-04-27 |
| Start Page: |
11375 |
| Language: |
English |
| DOI: |
10.1038/ncomms11375
|
| PROVIDER: |
scopus
|
| PMCID: |
PMC4853421
|
| PUBMED: |
27117709
|
| DOI/URL: |
|
| Notes: |
Article -- Export Date: 1 July 2016 -- Source: Scopus |
