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William J. Gradishar, MD, FACP, FASCO


Which Genetically Predisposed Older Women Should Undergo Breast Cancer Screening?

By: Julia Fiederlein
Posted: Wednesday, March 30, 2022

According to Fergus J. Couch, PhD, of the Mayo Clinic, Rochester, Minnesota, and colleagues, in older women, data are limited regarding the prevalence of germline pathogenic variants in established breast cancer predisposition genes. An analysis, which was published in the Journal of Clinical Oncology, may inform cancer screening guidelines and risk management in the general population and in those with estrogen receptor–negative or triple-negative breast cancer.

“All BRCA1, BRCA2, and PALB2 pathogenic variant carriers with estrogen receptor–negative breast cancer or triple-negative breast cancer diagnosed over age 65 and 60 years, respectively, should receive genetic testing,” the investigators commented. “Women with BRCA1 and BRCA2 pathogenic variants, and perhaps those with PALB2 and CHEK2 pathogenic variants, should be considered for MRI screening.”

A total of 26,707 women older than age 65 from population-based studies (51.5% with breast cancer and 48.5% age-matched unaffected individuals) were tested for pathogenic variants in germline predisposition genes. Pathogenic variants seemed to occur more frequently in patients with breast cancer compared with unaffected women (3.2% vs. 1.5%). A total of 3.4%, 1%, and 3% of patients with estrogen receptor–negative, estrogen receptor–positive, and triple-negative breast cancer, respectively, had pathogenic variants in BRCA1, BRCA2, and PALB2. Among women with no first-degree relatives with breast cancer, the frequency of pathogenic variants was lower. Pathogenic variants found in CHEK2, PALB2, BRCA2, and BRCA1 seemed to be associated with an increased risk of breast cancer. The remaining lifetime risks of breast cancer were at least 15% in non-Hispanic White women with pathogenic variants in BRCA1, BRCA2, and PALB2.

“Knowing predisposition gene pathogenic variant status can have a profound impact on patient management through enhanced screening for breast and other cancers, access to risk-reducing prophylactic surgeries, and targeted treatment for breast, ovarian, and other cancers,” the investigators remarked.

Disclosure: For full disclosures of the study authors, visit

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