Management of patients with BRCA mutation from the point of view of a breast surgeon

Abstract

Germ-line mutation in BRCA (BReast CAncer gene) 1 or BRCA2 are found in 3–4% of all women with breast cancer. These patients have a significant increased risk of breast and ovarian cancer. They are often younger when diagnosed with the mutation, and the possible breast cancer they get is often aggressive with inferior outcome. There are risk reducing strategies, and the most powerful strategy is risk reducing surgery, both risk reducing bilateral mastectomy (RRM) and risk reducing bilateral salpino-oophorectomy (PBSO). This review is meant to address breast surgery in patients with germline BRCA mutation. The guidelines and techniques applied is under continuous change and it is important for the clinicians to be well informed to provide the patient with the information needed for them to make an informed decision on what risk strategy to choose.

Highlights

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  Patients with germ-line mutation in BRCA1 or BRCA2 have a significant increased risk of breast and ovarian cancer.

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  There are different risk reducing strategies and the most powerful strategy is risk-reducing surgery, both risk reducing bilateral mastectomy and risk reducing bilateral salpingo-oophorectomy.

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  Guidelines and techniques for the risk reducing surgery of the breast are under continuous change and improvement.

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  Breast conserving therapy is not associated with worse survival and is a good option for a BRCA mutation carrier diagnosed with breast cancer. Risk-reducing mastectomy can be performed in a later setting.

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  The management of BRCA mutation carriers, both affected and unaffected, should be performed in a multidisciplinary team. Physicians need to be systematically educated and updated on the most recent literature.