Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.

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

Nat Commun 2016 04 27;7:11375. Epub 2016 Apr 27.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.

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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http://dx.doi.org/10.1038/ncomms11375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853421PMC

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April 2016
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