Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

对超过12万名个体进行的全基因组关联分析发现了15个新的乳腺癌易感基因位点

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作者：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 ,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 ,Jonine Figueroa ,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 ,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 ,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 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

期刊：	Nat Genet	影响因子：	31.700
时间：	2015	起止号：	2015 Apr;47(4):373-80.
doi：	10.1038/ng.3242.

Abstract

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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