Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

DM Glubb; MJ Maranian; K Michailidou; KA Pooley; KB Meyer; S Kar; S Carlebur; M O'Reilly; JA Betts; KM Hillman; S Kaufmann; J Beesley; S Canisius; JL Hopper; MC Southey; H Tsimiklis; C Apicella; MK Schmidt; A Broeks; FB Hogervorst; CE Van Der Schoot; K Muir; A Lophatananon; S Stewart-Brown; P Siriwanarangsan; PA Fasching; M Ruebner; AB Ekici; MW Beckmann; J Peto; I Dos-Santos-Silva; O Fletcher; N Johnson; PDP Pharoah; MK Bolla; Q Wang; J Dennis; EJ Sawyer; I Tomlinson; MJ Kerin; N Miller; B Burwinkel; F Marme; R Yang; H Surowy; P Guénel; T Truong; F Menegaux; M Sanchez; SE Bojesen; BG Nordestgaard; SF Nielsen; H Flyger; A González-Neira; J Benitez; MP Zamora; JI Arias Perez; H Anton-Culver; SL Neuhausen; H Brenner; AK Dieffenbach; V Arndt; C Stegmaier; A Meindl; RK Schmutzler; H Brauch; YD Ko; T Brüning; H Nevanlinna; TA Muranen; K Aittomäki; C Blomqvist; K Matsuo; H Ito; H Iwata; H Tanaka; T Dörk; NV Bogdanova; S Helbig; A Lindblom; S Margolin; A Mannermaa; V Kataja; VM Kosma; JM Hartikainen; AH Wu; CC Tseng; D Van Den Berg; DO Stram; D Lambrechts; H Zhao; C Weltens; E Van Limbergen; J Chang-Claude; D Flesch-Janys; A Rudolph; P Seibold; P Radice; P Peterlongo; M Barile

Journal article

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

DM Glubb, MJ Maranian, K Michailidou, KA Pooley, KB Meyer, S Kar, S Carlebur, M O'Reilly, JA Betts, KM Hillman, S Kaufmann, J Beesley, S Canisius, JL Hopper, MC Southey, H Tsimiklis, C Apicella, MK Schmidt, A Broeks, FB Hogervorst Show all

American Journal of Human Genetics | Published : 2015

DOI: 10.1016/j.ajhg.2014.11.009

Abstract

Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals and control individuals from 52 studies in the Breast Cancer Association Consortium. Multiple logistic regression analyses identified three independent risk signals: the strongest associations were with 15 correlated variants (iCHAV1), where the minor allele of the best candidate, rs62355902, associated with significantly increased risks of both estrogen-receptor-positive (ER+: odds ratio [OR] = 1.24, ..

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