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Research Letter
March 10, 2020

Prevalence of Pathogenic Variants in Cancer Susceptibility Genes Among Women With Postmenopausal Breast Cancer

Author Affiliations
  • 1Stanford University, Stanford, California
  • 2Myriad Genetics, Salt Lake City, Utah
  • 3University of California, San Diego School of Medicine, La Jolla
  • 4The State University of New York, Buffalo
JAMA. 2020;323(10):995-997. doi:10.1001/jama.2020.0229

Germline genetic testing for pathogenic variants (PVs) in cancer susceptibility genes after breast cancer diagnosis may inform cancer treatment, prevention, and testing of relatives. Whether testing should be performed depends partly on PV prevalence, which may be low in the general population but higher in women with risk factors (eg, young diagnosis age, family history). For the best-characterized breast cancer susceptibility genes, BRCA1, BRCA2, or both (BRCA1/2), a minimum PV prevalence of 2.5% to 10% has been recommended for testing.1 However, guidelines vary in testing all breast cancer patients2 vs only those with features suggestive of hereditary risk.3 Most guidelines do not address testing among postmenopausal women without hereditary risk factors, the most common subgroup of breast cancer patients, as PV prevalence data are lacking. This study’s purpose was to determine PV prevalence among women diagnosed with breast cancer after menopause vs the background prevalence among cancer-free postmenopausal women.