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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
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 Aittomaeki, 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 Foersti, 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. Gonzalez-Neira, Anna Greene, Mark H. Gronwald, Jacek Guenel, 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 Birk Jensen, Uffe 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, Borge 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 Pylkaes, 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, Therese Tsimiklis, Helen Teule, 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 Pilar Zamora, M. Zheng, Wei Hall, Per Kraft, Peter Vachon, Celine Slager, Susan Chenevix-Trench, Georgia Pharoah, Paul D. P. Monteiro, Alvaro A. N. Garcia-Closas, Montserrat Easton, Douglas F. Antoniou, Antonis C. Couch, Fergus J. Kuchenbaecker, Karoline B. Michailidou, Kyriaki Mendoza-Fandino, Gustavo A. Nord, Silje Lilyquist, Janna Olswold, Curtis Hallberg, Emily Agata, Simona Ahsan, Habibul Aittomaeki, 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 Foersti, 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. Gonzalez-Neira, Anna Greene, Mark H. Gronwald, Jacek Guenel, 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 Birk Jensen, Uffe 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, Borge 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 Pylkaes, 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, Therese Tsimiklis, Helen Teule, 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 Pilar Zamora, M. Zheng, Wei Hall, Per Kraft, Peter Vachon, Celine Slager, Susan Chenevix-Trench, Georgia Pharoah, Paul D. P. Monteiro, Alvaro A. N. Garcia-Closas, Montserrat Easton, Douglas F. Antoniou, Antonis C.
Publication Year :
2016
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.<br />Funding Agencies|European Community Seventh Framework Programme [223175, HEALTH-F2-2009-223175]; Cancer Research UK [C1287/A10118, C1287/A10710, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C12292/A11174]; National Institutes of Health [CA116201, CA128978, CA176785, CA192393]; National Institutes of Health, Post-Cancer GWAS initiative [1U19 CA148537, 1U19 CA148065, 1U19 CA148112]; National Institutes of Health, GAME-ON initiative; Canadian Institutes of Health Research (CIHR); Breast Cancer Res. Foundation; Ovarian Cancer Research Fund; Department of Defence [W81XWH-10-1-0341]; Florida Breast Cancer Foundation
Details
Database :
OAIster
Notes :
application/pdf, English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1233342591
Document Type :
Electronic Resource
Full Text :
https://doi.org/10.1038.ncomms11375