Points to Consider Regarding Risk-Reducing Mastectomy in High-, Moderate-, and Low-Penetrance Gene Carriers

Ann Surg Oncol. 2022 Sep;29(9):5821-5825. doi: 10.1245/s10434-022-11913-6. Epub 2022 May 23.

Abstract

Risk-reducing mastectomy is considered a safe and effective surgical procedure in high-risk individuals with BRCA1/2 germline mutations. Multigene panels identify women with alterations in breast cancer susceptibility genes other than BRCA1/2. International guidelines classify these genes as high-, moderate-, and low-penetrance based on their associated relative risk for breast cancer. Classification of specific genes is not always concordant among guidelines, and the indications for risk-reducing mastectomy are not defined. In this opinion paper, we review some considerations to clarify these controversial points.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / surgery
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Predisposition to Disease
  • Humans
  • Mastectomy* / methods
  • Mutation
  • Penetrance