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Haplotype Analysis Of Common Variants In The Brca1 Gene And Risk Of Sporadic Breast Cancer, David G. Cox, Peter Kraft, Susan E. Hankinson, David J. Hunter

Susan E. Hankinson

Introduction Truncation mutations in the BRCA1 gene cause a substantial increase in risk of breast cancer. However, these mutations are rare in the general population and account for little of the overall incidence of sporadic breast cancer. Method We used whole-gene resequencing data to select haplotype tagging single nucleotide polymorphisms, and examined the association between common haplotypes of BRCA1 and breast cancer in a nested case-control study in the Nurses' Health Study (1323 cases and 1910 controls). Results One haplotype was associated with a slight increase in risk (odds ratio 1.18, 95% confidence interval 1.02–1.37). A significant interaction (P = …