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BRCA1 and BRCA2 in Breast Cancer and Ovarian Cancer

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Abstract

Mutations of the BRCA1 and BRCA2 genes are known to confer an increased risk of breast cancer and ovarian cancer. These gene mutations are inherited in an autosomal dominant fashion and are highly penetrant in causing cancer. The lifetime risk of breast cancer is 57–65 % in carriers of BRCA1 mutations and 45–49 % in those with BRCA2 mutations. Ovarian cancer risk is 40 % and 18 %, respectively. Features in the personal and family history that suggest a genetic predisposition syndrome include history of breast or ovarian cancer at a young age, multiple breast cancers in the same person, multiple family members with breast or ovarian cancers, men with breast cancer, and Ashkenazi Jewish heritage. Genetic testing and genetic counseling are available to patients considered to be at high risk for these mutations. Management recommendations unique to this clinical scenario include specific screening guidelines for breast and ovarian cancers, chemoprophylaxis, and prophylactic operations. Prophylactic surgery is associated with dramatically reduced risk of developing cancer, with maximum benefit when performed at a young age; however, there are psychosocial and familial implications of these operations. Patients suspected of or confirmed to have a mutation of the BRCA1 or BRCA2 gene require multidisciplinary coordinated surveillance and cancer care.

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Authors and Affiliations

  1. Department of Surgery, Boston University School of Medicine, Boston Medical Center, 88 East Newton Street, 02118, Boston, MA, USA

    Michael R. Cassidy M.D.

  2. Department of Surgery, Surgical Oncology, Boston Medical Center/Boston University School of Medicine, 820 Harrison Avenue Suite 5006, 02199, Boston, MA, USA

    Jane E. Méndez M.D., F.A.C.S.

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  1. Michael R. Cassidy M.D.
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  2. Jane E. Méndez M.D., F.A.C.S.
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Correspondence to Jane E. Méndez M.D., F.A.C.S. .

Editor information

Editors and Affiliations

  1. Department of Surgery, LSU Health Sciences Center-Shreveport, Shreveport, Louisiana, USA

    Quyen D. Chu

  2. Department of Surgery, Jersey Shore University Medical Center, Neptune, New Jersey, USA

    John F. Gibbs

  3. John C. McDonald Regional Transplant Center, Willis Knighton Health System, Shreveport, Louisiana, USA

    Gazi B. Zibari

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Cassidy, M.R., Méndez, J.E. (2015). BRCA1 and BRCA2 in Breast Cancer and Ovarian Cancer. In: Chu, Q., Gibbs, J., Zibari, G. (eds) Surgical Oncology. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-1423-4_6

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  • DOI: https://doi.org/10.1007/978-1-4939-1423-4_6

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  • Online ISBN: 978-1-4939-1423-4

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