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Familial breast cancer cases are due to one or more of several genetic variants that confer moderate risk for disease among carriers. The genes that are definitively associated with increased breast cancer risk, such as BRCA1 and BRCA2, account for only a minority of familial breast cancer cases. Other genes, such as CHEK2, also increase breast cancer risk, but most familial breast cancer cases cannot be explained by known cancer-associated loci.
Researchers from the U.K. performed a two-stage genome-wide association study in which they identified 30 single nucleotide polymorphisms (SNPs) that were associated with increased risk for breast cancer. They confirmed their results by evaluating these SNPs in samples from 22 case-control breast ca…