Abstract:An estimated 35,000 patients with breast cancer (BC) have pathogenic BRCA1/2 variants. Unfortunately, in the current state of medical practice, 50-80% of pathogenic mutation carriers remain undetected and undiagnosed. These are largely women with moderate penetrance mutations, including women with BRCA1 mutations, which may not have been identified. There is an unmet challenge to improve the identification and risks of patients who have an inherited increased lifetime risk of BC. BRCA1 mutation carriers (BRCA1… Show more
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