Testing for Inherited Susceptibility to Breast Cancer

Hematol Oncol Clin North Am. 2023 Feb;37(1):17-31. doi: 10.1016/j.hoc.2022.08.003.


When BRCA1 and BRCA2 were first identified, the initial models for delivering testing were shaped by concepts of genetic exceptionalism and a lack of data regarding therapeutic implications and the effectiveness of risk reduction. Since then, interventions have been effective, and treatment implications have become clear. The sensitivity of guideline-based testing is incomplete, leading to calls for universal testing. Completely universal testing, however, is not necessary to identify the great majority of BRCA1 or BRCA2 variants. Broader testing (both in terms of eligibility and genes tested) will identify more variants, particularly in moderate penetrance genes, but the clinical implications remain less clear for these variants.

Keywords: Genetic risk; Genetic susceptibility; Genetic testing.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Breast Neoplasms* / diagnosis
  • Breast Neoplasms* / genetics
  • Female
  • Genetic Predisposition to Disease
  • Humans