Title: | Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer |
Author: | Couch, Fergus J. Kuchenbaecker, Karoline B. Michailidou, Kyriaki Mendoza-Fandino, Gustavo A. Nord, Silje Lilyquist, Jenna Olswold, Curtis Hallberg, Emily Agata, Simona Ahsan, Habibul Aittomäki, Kristiina Flesch-Janys, Dieter Carpenter, Jane Tomlinson, Ian P. James, Paul Tollenaar, Raem Swerdlow, Anthony J. Bojesen, Stig E. McGuffog, Lesley Miron, Penelope Truong, Thérèse Toland, Amanda Ewart Henderson, Brian E. Hollestelle, Antoinette Knight, Julia A. Cox, Angela Burwinkel, Barbara Yang, Xiaohong R Yannoukakos, Drakoulis Varon-Mateeva, Raymonda Lázaro García, Conxi Hooning, Maartje J. Rutgers, Emiel J. Domchek, Susan M. Wang-Gohrke, Shan Lambrechts, Diether Wang, Zhaoming Tsimiklis, Helen Daly, Mary B. Arver, Brita Olah, Edith Sawyer, Elinor J. Khaw, Kay-Tee Long, Jirong Eccles, Diana Díez Gibert, Orland Chenevix-Trench, Georgia Pharoah, Paul D. P. Yao, Song Margolin, Sara Kibriya, Muhammad G. Zheng, Wei Manoukian, Siranoush Zamora, M. Pilar Blank, Stephanie V. Ambrosone, Christine Chang-Claude, Jenny Phelan, Catherine M. Szabo, Csilla I. Barrowdale, Daniel Frost, Debra Bolla, Manjeet K. Bonanni, Bernardo Hunter, David J. Nathanson, Katherine L. Liu, Jianjun García Closas, Montserrat Muranen, Taru A. Monteiro, Alvaro N. Buys, Saundra S. Dorfling, Cecilia M. Teulé-Vega, Àlex Claes, Kathleen B. M. Glendon, Gord Damiola, Francesca Darabi, Hatef Kosma, Veli-Matti Park, Sue K. Brenner, Hermann Osorio, Ana Brauch, Hiltrud Rudolph, Anja Weitzel, Jeffrey N. Dunning, Alison M. Haeberle, Lothar Eliassen, Heather Ellis, Steve Pylkäs, Katri Devilee, Peter Poppe, Bruce Hoya, Miguel de la Blomqvist, Carl Jakubowska, Anna Herzog, Josef Ganz, Patricia A. Gapstur, Susan M. Figueroa, Jonine D. Scott, Rodney J. Fasching, Peter A. Cunningham, Julie M. Arun, Banu K. Ko, Yon-Dschun Fostira, Florentia Schmutzler, Rita Katharina Försti, Asta Santos-Silva, Isabel dos John, Esther M. van Rensburg, Elizabeth J. Weiderpass, Elisabete Foulkes, William D. Barkardottir, Rosa B. Robson, Mark Steinemann, Doris Laitman, Yael Khan, Sofia Goldgar, David E. González Neira, Anna Gaudet, Mia M. Teo, Soo-Hwang Romieu, Isabelle Lubinski, Jan Gerdes, Anne-Marie Teixeira, Manuel R. Gayther, Simon A. Friebel, Tara M. Lee, Eunjung Humphreys, Keith Hall, Peter Chung, Wendy K. Beckmann, Matthias W. Mannermaa, Arto Lindström, Sara Hansen, Thomas V. O. Hart, Steven Greene, Mark H. Turnbull, Clare Southey, Melissa C. Guénel, Pascal Tung, Nadine Gronwald, Jacek Hogervorst, Frans B. L. Konstantopoulou, Irene Easton, Douglas F. Dumont, Martine Imyanitov, Evgeny N. Mulligan, Anna Marie Jones, Michael Kabisch, Maria Santella, Regina M. Winqvist, Robert Heikkinen, Tuomas Wildiers, Hans Healey, Sue Andrulis, Irene L. Arndt, Volker Friedman, Eitan Kwong, Ava Olson, Janet E. Marchand, Loïc Le Lester, Jenny Slager, Susan L. Karlan, Beth Y. Vachon, Celine M. Kar, Siddhartha P. Canzian, Federico Giles, Graham G. Malone, Kathleen E. Pilarski, Robert Marmé, Frederik Martens, John W. M. Lindor, Noralane Bogdanova, Natalia V. Lindblom, Annika Janavicius, Ramunas Schmidt, Marjanka K. Rennert, Gad Neuhausen, Susan L. Nevanlinna, Heli Meindl, Alfons Czene, Kamila Anton-Culver, Hoda Hopper, John L. Stenmark-Askmalm, Marie Milne, Roger L. Cross, Simon S. Miller, Austin Mai, Phuong L. Senter, Leigha Garber, Judy Ghoussaini, Maya Huzarski, Tomasz Caldes, Trinidad Dolcetti, Riccardo Tapper, William Soucy, Penny Peeters, Petra H. M. Peissel, Bernard Nordestgaard, Børge G. Ekici, Arif B. Caligo, Maria A. Offit, Kenneth Ehrencrona, Hans Nussbaum, Robert L. Montagna, Marco Beckmann, Lars Sánchez, María José Gunter, Marc J. Kristensen, Vessela N. Isaacs, Claudine Tumino, Rosario Radice, Paolo Rahman, Nazneen Barile, Monica Gammon, Marilie D. Ding, Yuan C. Peto, Julian Gabrielson, Marike Peterlongo, Paolo Richardson, Andrea Stoppa-Lyonnet, Dominique Makalic, Enes Schmidt, Daniel F. Whittemore, Alice Sharma, Priyanka Simard, Jacques Chanock, Stephen J. Goldberg, Mark S. Rappaport-Fuerhauser, Christine Godwin, Andrew K. Rantala, Johanna Hoover, Robert N. Mazoyer, Sylvie Tamimi, Rulla Kraft, Peter Terry, Mary Beth Thomassen, Mads Hamann, Ute Sinilnikova, Olga M. Haiman, Christopher A. Singer, Christian F. Olopade, Olufunmilayo I. Benitez, Javier Antoniou, Antonis C. Ursin, Giski van Deurzen, Carolien H. M. Tihomirova, Laima Jensen, Uffe Birk Thompson, Deborah J. Schumacher, Fredrick |
Keywords: | Càncer de mama |
Issue Date: | 27-Apr-2016 |
Publisher: | Nature Publishing Group |
Abstract: | Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 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 similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/ncomms11375 |
It is part of: | Nature Communications, 2016, vol. 7 |
URI: | http://hdl.handle.net/2445/126861 |
Related resource: | https://doi.org/10.1038/ncomms11375 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
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