Pathogenic Variants, Family History, and Cumulative Risk of Breast Cancer in US Women

How do variants in predisposition genes, family history, and other factors impact breast cancer risk in the general US population?In this study including 67 692 women, those with a pathogenic variant (PV) and a first-degree family history of breast cancer had an estimated 22.5% risk of breast cancer by age 50 years and a 51.2% risk between age 50 and 80 years compared with an estimated 9.4% risk by age 50 years and 29.7% risk between ages 50 and 80 years in women with a PV but no family history. PVs were rare; risk among PV carriers varied by family history and other factors.Women with PVs can use these risk estimates to guide screening and prevention decisions.

Corresponding Author: Katie M. O’Brien, PhD, Epidemiology Branch, National Institute of Environmental Health Sciences, 111 TW Alexander Dr, Research Triangle Park, NC 27709 (katie.obrien@nih.gov).

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