Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

Kyriaki Michailidou ; Per Hall ; Anna Gonzalez-Neira ; Maya Ghoussaini ; Joe Dennis ; Roger L Milne ; Marjanka K Schmidt ; Jenny Chang-Claude ; Stig E Bojesen ; Manjeet K Bolla ; +214 more... Qin Wang ; Ed Dicks ; Andrew Lee ; Clare Turnbull ; Nazneen Rahman ; Breast and Ovarian Cancer Susceptibility Collaboration ; Olivia Fletcher ; Julian Peto ORCID logo ; Lorna Gibson ORCID logo ; Isabel Dos Santos Silva ORCID logo ; Heli Nevanlinna ; Taru A Muranen ; Kristiina Aittomäki ; Carl Blomqvist ; Kamila Czene ; Astrid Irwanto ; Jianjun Liu ; Quinten Waisfisz ; Hanne Meijers-Heijboer ; Muriel Adank ; Hereditary Breast and Ovarian Cancer Research Group Netherlands ; Rob B van der Luijt ; Rebecca Hein ; Norbert Dahmen ; Lars Beckman ; Alfons Meindl ; Rita K Schmutzler ; Bertram Müller-Myhsok ; Peter Lichtner ; John L Hopper ; Melissa C Southey ; Enes Makalic ; Daniel F Schmidt ; Andre G Uitterlinden ; Albert Hofman ; David J Hunter ; Stephen J Chanock ; Daniel Vincent ; François Bacot ; Daniel C Tessier ; Sander Canisius ; Lodewyk FA Wessels ; Christopher A Haiman ; Mitul Shah ; Robert Luben ; Judith Brown ; Craig Luccarini ; Nils Schoof ; Keith Humphreys ; Jingmei Li ; Børge G Nordestgaard ; Sune F Nielsen ; Henrik Flyger ; Fergus J Couch ; Xianshu Wang ; Celine Vachon ; Kristen N Stevens ; Diether Lambrechts ; Matthieu Moisse ; Robert Paridaens ; Marie-Rose Christiaens ; Anja Rudolph ; Stefan Nickels ; Dieter Flesch-Janys ; Nichola Johnson ; Zoe Aitken ; Kirsimari Aaltonen ; Tuomas Heikkinen ; Annegien Broeks ; Laura J Van't Veer ; C Ellen van der Schoot ; Pascal Guénel ; Thérèse Truong ; Pierre Laurent-Puig ; Florence Menegaux ; Frederik Marme ; Andreas Schneeweiss ; Christof Sohn ; Barbara Burwinkel ; M Pilar Zamora ; Jose Ignacio Arias Perez ; Guillermo Pita ; M Rosario Alonso ; Angela Cox ; Ian W Brock ; Simon S Cross ; Malcolm WR Reed ; Elinor J Sawyer ; Ian Tomlinson ; Michael J Kerin ; Nicola Miller ; Brian E Henderson ; Fredrick Schumacher ; Loic Le Marchand ; Irene L Andrulis ; Julia A Knight ; Gord Glendon ; Anna Marie Mulligan ; kConFab Investigators ; Australian Ovarian Cancer Study Group ; Annika Lindblom ; Sara Margolin ; Maartje J Hooning ; Antoinette Hollestelle ; Ans MW van den Ouweland ; Agnes Jager ; Quang M Bui ; Jennifer Stone ; Gillian S Dite ; Carmel Apicella ; Helen Tsimiklis ; Graham G Giles ; Gianluca Severi ; Laura Baglietto ; Peter A Fasching ; Lothar Haeberle ; Arif B Ekici ; Matthias W Beckmann ; Hermann Brenner ; Heiko Müller ; Volker Arndt ; Christa Stegmaier ; Anthony Swerdlow ; Alan Ashworth ; Nick Orr ; Michael Jones ; Jonine Figueroa ; Jolanta Lissowska ; Louise Brinton ; Mark S Goldberg ; France Labrèche ; Martine Dumont ; Robert Winqvist ; Katri Pylkäs ; Arja Jukkola-Vuorinen ; Mervi Grip ; Hiltrud Brauch ; Ute Hamann ; Thomas Brüning ; GENICA (Gene Environment Interaction and Breast Cancer in German ; Paolo Radice ; Paolo Peterlongo ; Siranoush Manoukian ; Bernardo Bonanni ; Peter Devilee ; Rob AEM Tollenaar ; Caroline Seynaeve ; Christi J van Asperen ; Anna Jakubowska ; Jan Lubinski ; Katarzyna Jaworska ; Katarzyna Durda ; Arto Mannermaa ; Vesa Kataja ; Veli-Matti Kosma ; Jaana M Hartikainen ; Natalia V Bogdanova ; Natalia N Antonenkova ; Thilo Dörk ; Vessela N Kristensen ; Hoda Anton-Culver ; Susan Slager ; Amanda E Toland ; Stephen Edge ; Florentia Fostira ; Daehee Kang ; Keun-Young Yoo ; Dong-Young Noh ; Keitaro Matsuo ; Hidemi Ito ; Hiroji Iwata ; Aiko Sueta ; Anna H Wu ; Chiu-Chen Tseng ; David Van Den Berg ; Daniel O Stram ; Xiao-Ou Shu ; Wei Lu ; Yu-Tang Gao ; Hui Cai ; Soo Hwang Teo ; Cheng Har Yip ; Sze Yee Phuah ; Belinda K Cornes ; Mikael Hartman ; Hui Miao ; Wei Yen Lim ; Jen-Hwei Sng ; Kenneth Muir ; Artitaya Lophatananon ; Sarah Stewart-Brown ; Pornthep Siriwanarangsan ; Chen-Yang Shen ; Chia-Ni Hsiung ; Pei-Ei Wu ; Shian-Ling Ding ; Suleeporn Sangrajrang ; Valerie Gaborieau ; Paul Brennan ; James McKay ; William J Blot ; Lisa B Signorello ; Qiuyin Cai ; Wei Zheng ; Sandra Deming-Halverson ; Martha Shrubsole ; Jirong Long ; Jacques Simard ; Montse Garcia-Closas ; Paul DP Pharoah ; Georgia Chenevix-Trench ; Alison M Dunning ; Javier Benitez ; Douglas F Easton ; (2013) Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nature genetics, 45 (4). 353-361e2. ISSN 1061-4036 DOI: 10.1038/ng.2563
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Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 × 10(-8)). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.

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