Breast cancer is the most common cancer in women in developed countries. To identify common breast cancer susceptibility alleles, we conducted a genome-wide association study in which 582,886 SNPs were genotyped in 3,659 cases with a family history of the disease and 4,897 controls. Promising associations were evaluated in a second stage, comprising 12,576 cases and 12,223 controls. We identified five new susceptibility loci, on chromosomes 9, 10 and 11 (P = 4.6 × 10-7 to P = 3.2 × 10-15). We also identified SNPs in the 6q25.1 (rs3757318, P = 2.9 × 10-6), 8q24 (rs1562430, P = 5.8 × 10-7) and LSP1 (rs909116, P = 7.3 × 10-7) regions that showed more significant association with risk than those reported previously. Previously identified breast cancer susceptibility loci were also found to show larger effect sizes in this study of familial breast cancer cases than in previous population-based studies, consistent with polygenic susceptibility to the disease.

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Journal Nature Genetics
Turnbull, C, Ahmed, S, Morrison, J, Pernet, D, Renwick, A, Maranian, M, … Easton, D.F. (2010). Genome-wide association study identifies five new breast cancer susceptibility loci. Nature Genetics, 42(6), 504–507. doi:10.1038/ng.586