Pathogenic Variant and Variant of Uncertain Significance

While you are likely aware of BRCA mutations as a significant risk factor for development of breast cancer (60-80% lifetime risk), there are many other pathogenic gene variants that have been identified in recent years. The surgical treatment of women with hereditary breast cancer differs from that of women with sporadic breast cancer, and women with hereditary breast cancer are also eligible for prophylactic mastectomy or intensive surveillance protocols. In this episode of BTK, we examine current national consensus guidelines for management of hereditary breast cancer, discuss a recent population-based study that establishes risk associated with various genes, and address both surgical and surveillance strategy for patients without breast cancer but with known pathogenic gene variants.

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