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Index/Topics/BRCA1 and BRCA2 Mutations

BRCA1 and BRCA2 Mutations

Genetic mutations that increase the risk of breast and ovarian cancer, particularly in Ashkenazi Jewish women.

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Jan 25, 2026

How do Ashkenazi-specific founder mutations affect genetic screening guidelines and clinical care?

—variants that rose to high frequency through historical bottlenecks—have shaped screening guidelines by concentrating testing on a limited set of high-yield variants for and targeted cancer-risk test...

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