Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer
In this study, deleterious variants in breast cancer susceptibility genes were associated with differential rates of ER-specific CBC subtypes, providing further evidence of distinct etiologies of CBC subtypes.
Abstract
Key Points Question Are moderate- to high-risk breast cancer susceptibility variants associated with development of estrogen receptor (ER)-positive and ER-negative contralateral breast cancer (CBC) subtypes? Findings In this case-control study of 1290 women, the rate of ER-positive CBC was 5 to 6 times higher in women with deleterious variants in BRCA2, ATM, and CHEK2. The rate of ER-negative CBC was 26 times higher in women with deleterious BRCA1 variants. Meaning In this study, deleterious variants in breast cancer susceptibility genes were associated with differential rates of ER-specific CBC subtypes, providing further evidence of distinct etiologies of CBC subtypes.