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Compared with that in the general population, the incidence of breast cancer is approximately double in women who have a first-degree relative with the disease, underscoring the role of genetics in breast cancer susceptibility. Women with mutations in BRCA1 and BRCA2 genes have a high risk for breast and other cancers. However, these mutations are not present in most families with multiple cases of breast cancer, leading cancer geneticists to propose that breast cancer is largely polygenic, with each susceptibility gene conferring a small effect on risk.
In three studies, researchers in international consortia compared genotypes in large populations of women with and without breast cancer to identify genes associated with increased susceptib…