Abstract
Genetic testing for BRCA1 and BRCA2 mutations is gaining acceptance in clinical oncology worldwide and may help target unaffected high-risk women for prevention and for close surveillance. Annual screening with MRI seems to be an effective surveillance strategy, but the long term follow-up of women with small MRI-detected breast cancers is necessary to establish its ultimate value. Women with cancer and a BRCA mutation may benefit from tailored treatments, such as cisplatin or olaparib. The treatment goals for a woman with a BRCA-associated breast cancer should be to prevent recurrence of the initial cancer and to prevent second primary breast and ovarian cancers. Mutations in BRCA1 and BRCA2 are presented throughout the world and it is important that the benefits of genetic testing and of targeted therapies be extended to women who live outside of North America and Western Europe.
Key Points
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Genetic testing for BRCA1 and BRCA2 is facilitated by the presence of one or more founder mutations in a population
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Ideally, prevention of hereditary breast cancer should encompass the entire period of risk
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Preventive oophorectomy reduces the risks of both breast and ovarian cancer
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Tamoxifen is currently the only drug approved for breast cancer prevention in premenopausal women
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The treatment of patients with breast cancer who have a BRCA1 or BRCA2 mutation should target the recurrence of the initial cancer and prevention of second primary cancers
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Rapid genetic testing at the point of breast cancer diagnosis may influence treatment plan, in particular with regard to the use of novel agents, such as cisplatin and olaparib
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Narod, S. BRCA mutations in the management of breast cancer: the state of the art. Nat Rev Clin Oncol 7, 702–707 (2010). https://doi.org/10.1038/nrclinonc.2010.166
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DOI: https://doi.org/10.1038/nrclinonc.2010.166
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