Fine-mapping of the 1p11.2 breast cancer susceptibility locus

HN Horne; CC Chung; H Zhang; K Yu; L Prokunina-Olsson; K Michailidou; MK Bolla; Q Wang; J Dennis; JL Hopper; MC Southey; MK Schmidt; A Broeks; K Muir; A Lophatananon; PA Fasching; MW Beckmann; O Fletcher; N Johnson; EJ Sawyer; I Tomlinson; B Burwinkel; F Marme; P Guénel; T Truong; SE Bojesen; H Flyger; J Benitez; A González-Neira; H Anton-Culver; SL Neuhausen; H Brenner; V Arndt; A Meindl; RK Schmutzler; H Brauch; U Hamann; H Nevanlinna; S Khan; K Matsuo; H Iwata; T Dörk; NV Bogdanova; A Lindblom; S Margolin; A Mannermaa; VM Kosma; G Chenevix-Trench; AH Wu; D Ven Den Berg; A Smeets; H Zhao; J Chang-Claude; A Rudolph; P Radice; M Barile; FJ Couch; C Vachon; GG Giles; RL Milne; CA Haiman; LL Marchand; MS Goldberg; SH Teo; NAM Taib; V Kristensen; AL Borresen-Dale; W Zheng; M Shrubsole; R Winqvist; A Jukkola-Vuorinen; IL Andrulis; JA Knight; P Devilee; C Seynaeve; M García-Closas; K Czene; H Darabi; A Hollestelle; JWM Martens; J Li; W Lu; XO Shu; A Cox; SS Cross; W Blot; Q Cai; M Shah; C Luccarini; C Baynes; P Harrington; D Kang; JY Choi; M Hartman; KS Chia; M Kabisch; D Torres; A Jakubowska; J Lubinski; S Sangrajrang

Journal article

Fine-mapping of the 1p11.2 breast cancer susceptibility locus

HN Horne, CC Chung, H Zhang, K Yu, L Prokunina-Olsson, K Michailidou, MK Bolla, Q Wang, J Dennis, JL Hopper, MC Southey, MK Schmidt, A Broeks, K Muir, A Lophatananon, PA Fasching, MW Beckmann, O Fletcher, N Johnson, EJ Sawyer Show all

Plos One | PUBLIC LIBRARY SCIENCE | Published : 2016

DOI: 10.1371/journal.pone.0160316

Abstract

The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Due to the complicated nature of the region on chr1p11.2:120,300,000-120,505,798, that lies near the centromere and contains seven duplicated genomic segments, we restricted analyses to..

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