Fine-scale mapping of the FGFR2 breast cancer risk locus: Putative functional variants differentially bind FOXA1 and E2F1

KB Meyer; M O'Reilly; K Michailidou; S Carlebur; SL Edwards; JD French; R Prathalingham; J Dennis; MK Bolla; Q Wang; I De Santiago; JL Hopper; H Tsimiklis; C Apicella; MC Southey; MK Schmidt; A Broeks; LJ Van 't Veer; FB Hogervorst; K Muir; A Lophatananon; S Stewart-Brown; P Siriwanarangsan; PA Fasching; MP Lux; AB Ekici; MW Beckmann; J Peto; I Dos Santos Silva; O Fletcher; N Johnson; EJ Sawyer; I Tomlinson; MJ Kerin; N Miller; F Marme; A Schneeweiss; C Sohn; B Burwinkel; P Guénel; T Truong; P Laurent-Puig; F Menegaux; SE Bojesen; BG Nordestgaard; SF Nielsen; H Flyger; RL Milne; MP Zamora; JI Arias; J Benitez; S Neuhausen; H Anton-Culver; A Ziogas; CC Dur; H Brenner; H Müller; V Arndt; C Stegmaier; A Meindl; RK Schmutzler; C Engel; N Ditsch; H Brauch; T Brüning; YD Ko; H Nevanlinna; TA Muranen; K Aittomäki; C Blomqvist; K Matsuo; H Ito; H Iwata; Y Yatabe; T Dörk; S Helbig; NV Bogdanova; A Lindblom; S Margolin; A Mannermaa; V Kataja; VM Kosma; JM Hartikainen; G Chenevix-Trench; AH Wu; CC Tseng; D Van Den Berg; DO Stram; D Lambrechts; B Thienpont; MR Christiaens; A Smeets; J Chang-Claude; A Rudolph; P Seibold; D Flesch-Janys; P Radice; P Peterlongo; B Bonanni; L Bernard

Journal article

Fine-scale mapping of the FGFR2 breast cancer risk locus: Putative functional variants differentially bind FOXA1 and E2F1

KB Meyer, M O'Reilly, K Michailidou, S Carlebur, SL Edwards, JD French, R Prathalingham, J Dennis, MK Bolla, Q Wang, I De Santiago, JL Hopper, H Tsimiklis, C Apicella, MC Southey, MK Schmidt, A Broeks, LJ Van 't Veer, FB Hogervorst, K Muir Show all

American Journal of Human Genetics | Published : 2013

DOI: 10.1016/j.ajhg.2013.10.026

Abstract

The 10q26 locus in the second intron of FGFR2 is the locus most strongly associated with estrogen-receptor-positive breast cancer in genome-wide association studies. We conducted fine-scale mapping in case-control studies genotyped with a custom chip (iCOGS), comprising 41 studies (n = 89,050) of European ancestry, 9 Asian ancestry studies (n = 13,983), and 2 African ancestry studies (n = 2,028) from the Breast Cancer Association Consortium. We identified three statistically independent risk signals within the locus. Within risk signals 1 and 3, genetic analysis identified five and two variants, respectively, highly correlated with the most strongly associated SNPs. By using a combination of..

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