Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for 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
Kyriaki Michailidou Jonathan Beesley Sara Lindstrom Sander Canisius Joe Dennis Michael J Lush Mel J Maranian Manjeet K Bolla Qin Wang Mitul Shah Barbara J Perkins Kamila Czene Mikael Eriksson Hatef Darabi Judith S Brand Stig E Bojesen Børge G Nordestgaard Henrik Flyger Sune F Nielsen Nazneen Rahman Clare Turnbull Olivia Fletcher Julian Peto Lorna Gibson Isabel dos-Santos-Silva Jenny Chang-Claude Dieter Flesch-Janys Anja Rudolph Ursula Eilber Sabine Behrens Heli Nevanlinna Taru A Muranen Kristiina Aittomäki Carl Blomqvist Sofia Khan Kirsimari Aaltonen Habibul Ahsan Muhammad G Kibriya Alice S Whittemore Esther M John Kathleen E Malone Marilie D Gammon Regina M Santella Giske Ursin Enes Makalic Daniel F Schmidt Graham Casey David J Hunter Susan M Gapstur Mia M Gaudet W Ryan Diver Christopher A Haiman Fredrick Schumacher Brian E Henderson Loic Le Marchand Christine D Berg Stephen J Chanock Robert N Hoover Diether Lambrechts Patrick Neven Hans Wildiers Erik van Limbergen Marjanka K Schmidt Annegien Broeks Senno Verhoef Sten Cornelissen Fergus J Couch Janet E Olson Emily Hallberg Celine Vachon Quinten Waisfisz Hanne Meijers-Heijboer Muriel A Adank Rob B van der Luijt Jingmei Li Jianjun Liu Keith Humphreys Daehee Kang Ji-Yeob Choi Sue K Park Keun-Young Yoo Keitaro Matsuo Hidemi Ito Hiroji Iwata Kazuo Tajima Pascal Guénel Thérèse Truong Claire Mulot Marie Sanchez Barbara Burwinkel Frederik Marme Harald Surowy Christof Sohn Anna H Wu Chiu-chen Tseng David Van Den Berg Daniel O Stram Anna González-Neira Javier Benitez M Pilar Zamora Jose Ignacio Arias Perez Xiao-Ou Shu Wei Lu Yu-Tang Gao Hui Cai Angela Cox Simon S Cross Malcolm W R Reed Irene L Andrulis Julia A Knight Gord Glendon Anna Marie Mulligan Elinor J Sawyer Ian Tomlinson Michael J Kerin Nicola Miller Annika Lindblom Sara Margolin Soo Hwang Teo Cheng Har Yip Nur Aishah Mohd Taib Gie-Hooi Tan Maartje J Hooning Antoinette Hollestelle John W M Martens J Margriet Collée William Blot Lisa B Signorello Qiuyin Cai John L Hopper Melissa C Southey Helen Tsimiklis Carmel Apicella Chen-Yang Shen Chia-Ni Hsiung Pei-Ei Wu Ming-Feng Hou Vessela N Kristensen Silje Nord Grethe I Grenaker Alnaes Graham G Giles Roger L Milne Catriona McLean Federico Canzian Dimitrios Trichopoulos Petra Peeters Eiliv Lund Malin Sund Kay-Tee Khaw Marc J Gunter Domenico Palli Lotte Maxild Mortensen Laure Dossus Jose-Maria Huerta Alfons Meindl Rita K Schmutzler Christian Sutter Rongxi Yang Kenneth Muir Artitaya Lophatananon Sarah Stewart-Brown Pornthep Siriwanarangsan Mikael Hartman Hui Miao Kee Seng Chia Ching Wan Chan Peter A Fasching Alexander Hein Matthias W Beckmann Lothar Haeberle Hermann Brenner Aida Karina Dieffenbach Volker Arndt Christa Stegmaier Alan Ashworth Nick Orr Minouk J Schoemaker Anthony J Swerdlow Louise Brinton Montserrat Garcia-Closas Wei Zheng Sandra L Halverson Martha Shrubsole Jirong Long Mark S Goldberg France Labrèche Martine Dumont Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Hiltrud Brauch Ute Hamann Thomas Brüning Paolo Radice Paolo Peterlongo Siranoush Manoukian Loris Bernard Natalia V Bogdanova Thilo Dörk Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Christi J Van Asperen Anna Jakubowska Jan Lubinski Katarzyna Jaworska Tomasz Huzarski Suleeporn Sangrajrang Valerie Gaborieau Paul Brennan James McKay Susan Slager Amanda E Toland Christine B Ambrosone Drakoulis Yannoukakos Maria Kabisch Diana Torres Susan L Neuhausen Hoda Anton-Culver Craig Luccarini Caroline Baynes Shahana Ahmed Catherine S Healey Daniel C Tessier Daniel Vincent Francois Bacot Guillermo Pita M Rosario Alonso Nuria Álvarez Daniel Herrero Jacques Simard Paul P D P Pharoah Peter Kraft Alison M Dunning Georgia Chenevix-Trench Per Hall Douglas F Easton

Nat Genet 2015 Apr 9;47(4):373-80. Epub 2015 Mar 9.

1] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [2] Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.

Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 × 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.

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http://dx.doi.org/10.1038/ng.3242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549775PMC

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April 2015
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