Accès ouvert déclaré
2020
article
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Lars Beckmann, Kay‐Tee Khaw, Mark E. Robson, Diether Lambrechts, Janna Lilyquist, Emily Hallberg, Robert Winqvist, Andrea L. Richardson, Anna Marie Mulligan, Nadine Tung, Brita Arver, Rodney J. Scott, Banu Arun, Gord Glendon, Wei Zheng, Heli Nevanlinna, Kathleen E. Malone, Roger L. Milne, Mark H. Greene, Wendy K. Chung, Susan L. Neuhausen, Enes Makalic, Loı̈c Le Marchand, Robert A.E.M. Tollenaar, Javier Benı́tez, Matthias W. Beckmann, Regina M. Santella, Rulla M. Tamimi, Arif B. Ekici, Per Hall, Habibul Ahsan, Janet E. Olson, Uffe Birk Jensen, Daniel Barrowdale, Maya Ghoussaini, Annika Lindblom, Marco Montagna, Maria Kabisch, Angela Cox, Marike Gabrielson, Peter Kraft, Paolo Radice, Laima Tihomirova, Shan Wang‐Gohrke, Csilla I. Szabo, Kathleen Claes, Maartje J. Hooning, Saundra S. Buys, Sara Lindström, Rosario Tumino, Eunjung Lee, Anthony J. Swerdlow, Nazneen Rahman, Bernardo Bonanni, Hatef Darabi, Katherine L. Nathanson, Monica Barile, Thomas van Overeem Hansen, Georgia Chenevix‐Trench, Phuong L. Mai, Simon S. Cross, Michael E. Jones, Soo‐Hwang Teo, Jane Carpenter, Isabel dos‐Santos‐Silva, Zhaoming Wang, Julian Peto, Helen Tsimiklis, Cecilia M. Dorfling, Marjanka K. Schmidt, Julie M. Cunningham, Christine Rappaport, Susan M. Gapstur, Rita K. Schmutzler, Lothar Haeberle, Pascal Guénel, Mark S. Goldberg, David J. Hunter, Beth Y. Karlan, Olufunmilayo I. Olopade, Jenny Lester, Dominique Stoppa‐Lyonnet, Kamila Czene, Clare Turnbull, Christopher A. Haiman, Irene L. Andrulis, Austin Miller, Natalia Bogdanova, Amanda E. Toland, Sue K. Park, Leigha Senter, Hans Ehrencrona, Alison M. Dunning, Elizabeth J. van Rensburg, Fergus J. Couch, Graham G. Giles, Ava Kwong, Xiaohong R. Yang, Curtis Olswold, Jan Lubiński, Rósa B. Barkardóttir, Dieter Flesch‐Janys, Børge G. Nordestgaard, Susan M. Domchek, Gustavo Mendoza-Fandiño, Stig E. Bojesen, Douglas F. Easton, Song Yao, Àlex Teulé, Olga M. Sinilnikova, Susan L. Slager, M Pilar Zamora, Daniel F. Schmidt, Celine M. Vachon, Ute Hamann, Yon‐Dschun Ko, Anne‐Marie Gerdes, Robert L. Nussbaum, Peter Devilee, Melissa C. Southey, Gad Rennert, A. Heather Eliassen, Keith Humphreys, Montserrat García‐Closas, Jenny Chang‐Claude, Sue Healey, Noralane M. Lindor, Andrew K. Godwin, Penny Soucy, Tomasz Huzarski, Jonine D. Figueroa, Manuel R. Teixeira, Deborah J. Thompson, Elinor J. Sawyer, John L. Hopper, Sylvie Mazoyer, David E. Goldgar, Graham J. Mann, Orland Dı́ez, Simona Agata, Jirong Long, Julia A. Knight, Riccardo Dolcetti, Frans B.L. Hogervorst, Carolien H. M. van Deurzen, Antoinette Hollestelle, Emiel J. Rutgers, Patricia A. Ganz, Antonis C. Antoniou, Peter A. Fasching, Robert N. Hoover, Tara M. Friebel, Jeffrey N. Weitzel, Paolo Peterlongo, Stephen J. Chanock, Alvaro A. N. Monteiro, Francesca Damiola, Elisabete Weiderpass, William Tapper, Catherine M. Phelan, Steven N. Hart, Eitan Friedman, Hoda Anton‐Culver, Stephanie V. Blank, Sara Margolin, Barbara Burwinkel, María‐José Sánchez, Karoline Kuchenbaecker, Ian Tomlinson, Jianjun Liu, Anna González‐Neira, Anja Rudolph, Raymonda Varon-Mateeva, Katri Pylkäs, Federico Canzian, Penelope Miron, Volker Arndt, Hans Wildiers, Florentia Fostira, Bernard Peissel, Trinidad Caldés, Johanna Rantala, Kyriaki Michailidou, Judy E. Garber, Irene Konstantopoulou, Muhammad G. Kibriya, Tuomas Heikkinen, Kristiina Aittomäki, Yael Laitman, Siddhartha Kar, Thérèse Truong, Priyanka Sharma, Mads Thomassen, Asta Försti, Mia M. Gaudet, Manjeet K. Bolla, Edith Oláh, Ramūnas Janavičius, Marc J. Gunter, Christine B. Ambrosone, Drakoulis Yannoukakos, Conxi Lázaro, Debra Frost, Hermann Brenner, Mary Beth Terry, Maria A. Caligo, Doris Steinemann, Frederik Marmé, Ana Osório, Paul A. James, Miguel de la Hoya, Paul D.P. Pharoah, Alfons Meindl, Carl Blomqvist, Robert Pilarski, Martine Dumont, Veli‐Matti Kosma, Isabelle Romieu, Sofia Khan, Brian E. Henderson, Petra H. Peeters, Christian F. Singer, Vessela N. Kristensen, Jacek Gronwald, Jacques Simard, John W.M. Martens, Lesley McGuffog, Simon A. Gayther, Evgeny N. Imyanitov, Esther M. John, Kenneth Offit, Fredrick R. Schumacher, Marilie D. Gammon, Marie Stenmark-Askmalm, William D. Foulkes, Claudine Isaacs, Alice S. Whittemore, Silje Nord, Mary B. Daly, Yuan Chun Ding, Siranoush Manoukian, Anna Jakubowska, Taru Muranen, Josef Herzog, Bruce Poppe, Hiltrud Brauch
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Résumé fourni par la source
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.
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Sujets associés
Estrogen and related hormone effectsGenomics and Chromatin DynamicsDNA and Nucleic Acid Chemistry