Mutations in BRCA1 and BRCA2 are found in approximately 1 in 300 individuals in the general population and 1 in 40 individuals of Ashkenazi Jewish descent. Such mutations are associated with very elevated risks of breast cancer (lifetime risk approximately 70% by age 80 years) and ovarian cancer (45% for BRCA1 and 20% for BRCA2 mutation carriers).1 Increased risks of pancreatic cancer and high-grade prostate cancer are also seen, particularly for BRCA2 mutation carriers. Recommendations from the National Comprehensive Cancer Network2 for genetic testing for BRCA1 and BRCA2 mutations continue to expand and now include (but are not limited to) all women with ovarian cancer; breast cancer diagnosed younger than 45 years, triple-negative breast cancer younger than 60 years, or breast cancer with Ashkenazi Jewish ancestry; all individuals with pancreatic cancer; and all men with breast cancer or metastatic prostate cancer. With proliferating genetic testing options (including the controversial availability of a direct-to-consumer option for the Ashkenazi Jewish founder mutations3), rapidly falling costs, and ongoing discussions regarding the potential in the future for population screening, rates of testing are expected to continue to increase. Thus, it is likely that more women will be identified as having BRCA1 and BRCA2 mutations and will face decisions regarding risk-reducing mastectomy.
Domchek SM. Risk-Reducing Mastectomy in BRCA1 and BRCA2 Mutation Carriers: A Complex Discussion. JAMA. 2019;321(1):27. doi:10.1001/jama.2018.18942
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