Genetic Testing and Risk Reducing Mastecttomy

Patients with a significant family history for breast and ovarian cancer in first- and second-degree relatives it is important to recognize that genetic testing does not identify mutations in all high-risk families and it is not always possible to test the most informative (best testable) individual in the family.

Consequently, the Society of Surgical Oncology and the American Society of Clinical Oncology have affirmed that risk reducing surgery is an appropriate consideration when a significant family history exists, even when genetic testing does not demonstrate a mutation or when the proband does not wish to have genetic testing. However, if there is a known mutation in the family accounting for the affected individuals and the proband is unaffected and without a genetic mutation, then the result is interpreted as a true negative, and therefore risk reducing mastectomy would not be indicated on the basis of the genetic information alone.

In women undergoing risk reducing mastectomy, the likelihood of a positive sentinel node is low, especially if the appropriate preoperative imaging is negative; hence, bilateral sentinel node biopsy is not mandatory. Reconstruction, however, is safe and may be performed concurrently at the risk-reducing surgery.

Risk reducing mastectomy does not completely eliminate the risk of breast cancer. Some tissue must remain under the skin flaps to preserve the blood supply and viability of the skin; however, this procedure has been found to lower a woman’s risk of breast cancer by over 90%.

Once a woman has bilateral risk reducing mastectomy, no annual breast diagnostic imaging for screening is required, as there should be very little breast tissue remaining to image. Physical examination is the mainstay of follow-up to assess recurrence by examining the skin flaps and nodal basins.

National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Available at

Czyszczon IA, Roland L, Sahoo S. Routine prophylactic sentinel lymph node biopsy is not indicated in women undergoing prophylactic mastectomy. J Surg Oncol. 2012;105:650-654.

Guillem JG, Wood WC, Moley JF, et al. ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes. Ann Surg Oncol. 2006;13:1296-1321.

Hartmann LC, Schaid DJ, Woods JE, et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med. 1999;340:77-84.

Newman LA, Kuerer HM, Hung KK, et al. Prophylactic mastectomy. J Am Coll Surg. 2000;191:322-330.

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