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Letter

Nature Genetics 39, 870–874 (1 July 2007) | doi:10.1038/ng2075

A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer

David J Hunter , Peter Kraft , Kevin B Jacobs , David G Cox , Meredith Yeager , Susan E Hankinson , Sholom Wacholder , Zhaoming Wang , Robert Welch , Amy Hutchinson , Junwen Wang , Kai Yu , Nilanjan Chatterjee , Nick Orr , Walter C Willett , Graham A Colditz , Regina G Ziegler , Christine D Berg , Saundra S Buys , Catherine A McCarty , Heather Spencer Feigelson , Eugenia E Calle , Michael J Thun , Richard B Hayes , Margaret Tucker , Daniela S Gerhard , Joseph F Fraumeni , Robert N Hoover , Gilles Thomas & Stephen J Chanock

We conducted a genome-wide association study (GWAS) of breast cancer by genotyping 528,173 SNPs in 1,145 postmenopausal women of European ancestry with invasive breast cancer and 1,142 controls. We identified four SNPs in intron 2 of FGFR2 (which encodes a receptor tyrosine kinase and is amplified or overexpressed in some breast cancers) that were highly associated with breast cancer and confirmed this association in 1,776 affected individuals and 2,072 controls from three additional studies.