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Management Updates for Women with a BRCA1 or BRCA2 Mutation

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Abstract

In most cases of families with breast and ovarian cancer, the pattern of cancers in the family can be attributed to mutations in the BRCA1 and BRCA2 genes. Genetic testing for these cancer susceptibility genes typically takes place in the context of comprehensive genetic counseling. Strategies have been developed for the medical management of women at high risk of developing breast cancer, including options for screening and prophylactic surgery. BRCA1 and BRCA2 carriers are recommended to undergo prophylactic bilateral salpingo-oophorectomy by age 35–40 years or when childbearing is complete. This surgery significantly reduces the risk of ovarian cancer and also reduces the risk of breast cancer when performed in premenopausal mutation carriers. For breast cancer management, BRCA1 and BRCA2 carriers are offered the options of increased surveillance, with or without chemoprevention, or prophylactic surgery. Currently, BRCA carrier status is not used as an independent prognostic factor regarding systemic treatment options.

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Acknowledgments

We would like to acknowledge Beth Peshkin for her careful editing of this manuscript. This work was supported by the Jess and Mildred Fisher Center for Familial Cancer Research.

The authors have no conflicts of interest that are directly relevant to the content of this review.

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  1. Lombardi Comprehensive Cancer Center, Jess and Mildred Fisher Center for Familial Cancer Research, Washington, DC, USA

    Rachel Nusbaum &  Claudine Isaacs

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Nusbaum, R., Isaacs, C. Management Updates for Women with a BRCA1 or BRCA2 Mutation. Mol Diag Ther 11, 133–144 (2007). https://doi.org/10.1007/BF03256234

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