Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
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Authors
Couch, Fergus J.
Kuchenbaecker, Karoline B.
Michailidou, Kyriaki
Mendoza-Fandino, Gustavo A.
Nord, Silje
Lilyquist, Janna
Olswold, Curtis
Hallberg, Emily
Agata, Simona
Ahsan, Habibul
Aittomäki, Kristiina
Ambrosone, Christine
Andrulis, Irene L.
Anton-Culver, Hoda
Arndt, Volker
Arun, Banu K.
Arver, Brita
Barile, Monica
Barkardottir, Rosa B.
Barrowdale, Daniel
Beckmann, Lars
Beckmann, Matthias W.
Benitez, Javier
Blank, Stephanie V.
Blomqvist, Carl
Bogdanova, Natalia V.
Bojesen, Stig E.
Bolla, Manjeet K.
Bonanni, Bernardo
Brauch, Hiltrud
Brenner, Hermann
Burwinkel, Barbara
Buys, Saundra S.
Caldes, Trinidad
Caligo, Maria A.
Canzian, Federico
Carpenter, Jane
Chang-Claude, Jenny
Chanock, Stephen J.
Chung, Wendy K.
Claes, Kathleen B. M.
Cox, Angela
Cross, Simon S.
Cunningham, Julie M.
Czene, Kamila
Daly, Mary B.
Damiola, Francesca
Darabi, Hatef
de la Hoya, Miguel
Devilee, Peter
Diez, Orland
Ding, Yuan C.
Dolcetti, Riccardo
Domchek, Susan M.
Dorfling, Cecilia M.
dos-Santos-Silva, Isabel
Dumont, Martine
Dunning, Alison M.
Eccles, Diana M.
Ehrencrona, Hans
Ekici, Arif B.
Eliassen, Heather
Ellis, Steve
Fasching, Peter A.
Figueroa, Jonine
Flesch-Janys, Dieter
Försti, Asta
Fostira, Florentia
Foulkes, William D.
Friebel, Tara
Friedman, Eitan
Frost, Debra
Gabrielson, Marike
Gammon, Marilie D.
Ganz, Patricia A.
Gapstur, Susan M.
Garber, Judy
Gaudet, Mia M.
Gayther, Simon A.
Gerdes, Anne-Marie
Ghoussaini, Maya
Giles, Graham G.
Glendon, Gord
Godwin, Andrew K.
Goldberg, Mark S.
Goldgar, David E.
González-Neira, Anna
Greene, Mark H.
Gronwald, Jacek
Guénel, Pascal
Gunter, Marc
Haeberle, Lothar
Haiman, Christopher A.
Hamann, Ute
Hansen, Thomas V. O.
Hart, Steven
Healey, Sue
Heikkinen, Tuomas
Henderson, Brian E.
Herzog, Josef
Hogervorst, Frans B. L.
Hollestelle, Antoinette
Hooning, Maartje J.
Hoover, Robert N.
Hopper, John L.
Humphreys, Keith
Hunter, David J.
Huzarski, Tomasz
Imyanitov, Evgeny N.
Isaacs, Claudine
Jakubowska, Anna
James, Paul
Janavicius, Ramunas
Jensen, Uffe Birk
John, Esther M.
Jones, Michael
Kabisch, Maria
Kar, Siddhartha
Karlan, Beth Y.
Khan, Sofia
Khaw, Kay-Tee
Kibriya, Muhammad G.
Knight, Julia A.
Ko, Yon-Dschun
Konstantopoulou, Irene
Kosma, Veli-Matti
Kristensen, Vessela
Kwong, Ava
Laitman, Yael
Lambrechts, Diether
Lazaro, Conxi
Lee, Eunjung
Le Marchand, Loic
Lester, Jenny
Lindblom, Annika
Lindor, Noralane
Lindstrom, Sara
Liu, Jianjun
Long, Jirong
Lubinski, Jan
Mai, Phuong L.
Makalic, Enes
Malone, Kathleen E.
Mannermaa, Arto
Manoukian, Siranoush
Margolin, Sara
Marme, Frederik
Martens, John W. M.
McGuffog, Lesley
Meindl, Alfons
Miller, Austin
Milne, Roger L.
Miron, Penelope
Montagna, Marco
Mazoyer, Sylvie
Mulligan, Anna M.
Muranen, Taru A.
Nathanson, Katherine L.
Neuhausen, Susan L.
Nevanlinna, Heli
Nordestgaard, Børge G.
Nussbaum, Robert L.
Offit, Kenneth
Olah, Edith
Olopade, Olufunmilayo I.
Olson, Janet E.
Osorio, Ana
Park, Sue K.
Peeters, Petra H.
Peissel, Bernard
Peterlongo, Paolo
Peto, Julian
Phelan, Catherine M.
Pilarski, Robert
Poppe, Bruce
Pylkäs, Katri
Radice, Paolo
Rahman, Nazneen
Rantala, Johanna
Rappaport, Christine
Rennert, Gad
Richardson, Andrea
Robson, Mark
Romieu, Isabelle
Rudolph, Anja
Rutgers, Emiel J.
Sanchez, Maria-Jose
Santella, Regina M.
Sawyer, Elinor J.
Schmidt, Daniel F.
Schmidt, Marjanka K.
Schmutzler, Rita K.
Schumacher, Fredrick
Scott, Rodney
Senter, Leigha
Sharma, Priyanka
Simard, Jacques
Singer, Christian F.
Sinilnikova, Olga M.
Soucy, Penny
Southey, Melissa
Steinemann, Doris
Stenmark-Askmalm, Marie
Stoppa-Lyonnet, Dominique
Swerdlow, Anthony
Szabo, Csilla I.
Tamimi, Rulla
Tapper, William
Teixeira, Manuel R.
Teo, Soo-Hwang
Terry, Mary B.
Thomassen, Mads
Thompson, Deborah
Tihomirova, Laima
Toland, Amanda E.
Tollenaar, Robert A. E. M.
Tomlinson, Ian
Truong, Thérèse
Tsimiklis, Helen
Teulé, Alex
Tumino, Rosario
Tung, Nadine
Turnbull, Clare
Ursin, Giski
van Deurzen, Carolien H. M.
van Rensburg, Elizabeth J.
Varon-Mateeva, Raymonda
Wang, Zhaoming
Wang-Gohrke, Shan
Weiderpass, Elisabete
Weitzel, Jeffrey N.
Whittemore, Alice
Wildiers, Hans
Winqvist, Robert
Yang, Xiaohong R.
Yannoukakos, Drakoulis
Yao, Song
Zamora, M. Pilar
Zheng, Wei
Hall, Per
Kraft, Peter
Vachon, Celine
Slager, Susan
Chenevix-Trench, Georgia
Pharoah, Paul D. P.
Monteiro, Alvaro A. N.
García-Closas, Montserrat
Easton, Douglas F.
Antoniou, Antonis C.
Publication Date
2016-04-27Journal Title
Nature Communications
Publisher
Nature Publishing Group
Volume
7
Number
11375
Language
English
Type
Article
This Version
VoR
Metadata
Show full item recordCitation
Couch, F. J., Kuchenbaecker, K. B., Michailidou, K., Mendoza-Fandino, G. A., Nord, S., Lilyquist, J., Olswold, C., et al. (2016). Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nature Communications, 7 (11375)https://doi.org/10.1038/ncomms11375
Description
This is the final version of the article. It first appeared from Nature Publishing Group via http://dx.doi.org/10.1038/ncomms11375
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.
Keywords
biological sciences, cancer, genetics
Sponsorship
B.C.A.C. was funded through a European Community Seventh Framework Programme under grant agreement no 223175 (HEALTH-F2-2009-223175; COGS); Cancer Research UK (C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692); the National Institutes of Health Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), R01 grants (CA128978, CA176785, CA192393), and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112 - the GAME-ON initiative); the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, the Breast Cancer Res. Foundation, and the Ovarian Cancer Research Fund. CIMBA genotyping was supported by National Institutes of Health grant (CA128978); the Department of Defence (W81XWH-10-1-0341); and the Breast Cancer Res. Foundation. CIMBA data management and data analysis were supported by Cancer Research UK grants C12292/A11174 and C1287/A10118. This study made use of data generated by the Wellcome Trust Case Control consortium. Functional studies were supported by the Florida Breast Cancer Foundation. A full description of funding and acknowledgments is provided in Supplementary Note 1.
Identifiers
External DOI: https://doi.org/10.1038/ncomms11375
This record's URL: https://www.repository.cam.ac.uk/handle/1810/256746
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