Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

M Ghoussaini; JD French; K Michailidou; S Nord; J Beesley; S Canisus; KM Hillman; S Kaufmann; H Sivakumaran; M Moradi Marjaneh; JS Lee; J Dennis; MK Bolla; Q Wang; E Dicks; RL Milne; 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; MR Alonso; G Pita; SL Neuhausen; H Anton-Culver; H Brenner; V Arndt; A Meindl; RK Schmutzler; H Brauch; U Hamann; DC Tessier; D Vincent; H Nevanlinna; S Khan; K Matsuo; H Ito; T Dörk; NV Bogdanova; A Lindblom; S Margolin; A Mannermaa; VM Kosma; AH Wu; D Van Den Berg; D Lambrechts; G Floris; J Chang-Claude; A Rudolph; P Radice; M Barile; FJ Couch; E Hallberg; GG Giles; CA Haiman; L Le Marchand; MS Goldberg; SH Teo; CH Yip; AL Borresen-Dale; W Zheng; Q Cai; R Winqvist; K Pylkäs; IL Andrulis; P Devilee; RAEM Tollenaar; M García-Closas; J Figueroa; P Hall; K Czene; JS Brand; H Darabi; M Eriksson; MJ Hooning; LB Koppert; J Li; XO Shu; Y Zheng; A Cox; SS Cross; M Shah; V Rhenius; JY Choi; D Kang

Journal article

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

M Ghoussaini, JD French, K Michailidou, S Nord, J Beesley, S Canisus, KM Hillman, S Kaufmann, H Sivakumaran, M Moradi Marjaneh, JS Lee, J Dennis, MK Bolla, Q Wang, E Dicks, RL Milne, JL Hopper, MC Southey, MK Schmidt, A Broeks Show all

American Journal of Human Genetics | CELL PRESS | Published : 2016

DOI: 10.1016/j.ajhg.2016.07.017

Abstract

Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects from 50 case-control studies in the Breast Cancer Association Consortium (BCAC). With data for 3,365 genotyped and imputed SNPs across a 1 Mb region (positions 44,394,495–45,364,167; NCBI build 37), we found evidence for at least three independent signals: the strongest signal, consisting of a single SNP rs10941679, was associated with risk of estrogen-receptor-positive (ER+) breast cancer (per-g allele OR ER+ = 1.15; 95% CI 1.13–1.18; p = 8.35 × 10−30). After adjustment for rs1094..

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