Genetics of Breast Cancer: Risk Models, Who to Test, and Management Options

Surg Clin North Am. 2023 Feb;103(1):35-47. doi: 10.1016/j.suc.2022.08.016. Epub 2022 Oct 17.

Abstract

Genetic testing plays an important role in assessing breast cancer risk and often the risk of other types of cancers. Accurate risk assessment and stratification represents a critical element of identifying who is best served by increased surveillance and consideration of other prevention or treatment options while also limiting overtreatment and unnecessary testing. The indications for testing will likely continue to expand, and ideally, more women with a genetic predisposition to breast cancer will be identified before they are diagnosed with breast cancer and thus have the option to consider effective screening and prevention management strategies.

Keywords: Breast cancer genetics; Breast cancer prevention; Breast cancer risk; Breast cancer screening; Genetic testing.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms* / diagnosis
  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / therapy
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Risk Assessment