Breast cancer BRCA1/BRCA2 genetic testing

From - A Hematology Oncology Wiki
Jump to: navigation, search

Criteria for BRCA1/BRCA2 genetic testing

This is from a clinical trial protocol and is similar to, but not identical to, the NCCN breast cancer familiar risk assessment guidelines.[1] Additional resources can be found at the links below.[2][3]

  • Breast cancer diagnosed ≤45 years old
  • Diagnosed at age ≤50 years old with:
    • first, second, or third-degree blood relative with breast cancer diagnosis ≤50 years old
    • and/or epithelial ovarian or fallopian peritoneal cancer at any age
  • Diagnosed at age <60 years old with a triple negative breast cancer
  • Two breast primaries--that is, bilateral disease or two or more clearly separate ipsilateral primary tumors--when first breast cancer diagnosis occurred prior to age 50
  • Personal history of epithelial ovarian, fallopian tube, or primary peritoneal cancer
  • Diagnosed at any age with ≥2 first, second, or third-degree relatives with breast and/or epithelial ovarian, fallopian tube, or primary peritoneal cancer at any age
  • First or second-degree relative of anybody known to carry a harmful BRCA1 or BRCA2 mutation
  • Ashkenazi Jewish descent
  • Male breast cancer
  • First, second, or third-degree male relative with breast cancer


  1. NCCN Guidelines for Breast and/or Ovarian Genetic Assessment
  2. BRCA1 and BRCA2: Cancer Risk and Genetic Testing (
  3. U.S. Preventive Services Task Force (USPSTF) Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility