BRCA1, BRCA2, and common variants

Understand the connection

BRCA1 and BRCA2 help repair damaged DNA. Common polymorphisms such as BRCA1 rs799917 and BRCA2 rs1801406 are different from a confirmed pathogenic BRCA variant.

Follow the pathway

Dr. Purser discusses DNA repair, inherited risk, and why the exact variant classification matters. A familiar gene name on a consumer report does not by itself indicate hereditary breast or ovarian cancer syndrome. Family history and a validated clinical test can change what follow-up is appropriate.

Bring these questions to your visit

Ask whether the variant is benign, uncertain, or pathogenic according to a clinical genetics interpretation. If there is a significant personal or family cancer history, ask about genetic counseling and the appropriate screening plan.