Original Investigation

Prevalence of and Variants in an Unselected Population of Women With Breast Cancer

JAMA Network Open 10.1001/jamanetworkopen.2025.31577

September 15, 2025 at 11:00 AM EDT

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What is the prevalence of and pathogenic or likely (P/LP) variants in an unselected population of women with breast cancer?This cohort study enrolled 2401 women with breast cancer for germline testing. Hispanic women were 2.58 times as likely as non-Hispanic women to carry a P/LP germline mutation in than variants, and P/LP variants in were identified in Hispanic women more often than in non-Hispanic women.These findings suggest that universal BRCA1 and BRCA2 testing should be performed for all breast cancer patients, especially in women from minoritized racial and ethnic groups.

Corresponding Author: Joanne E. Mortimer, MD, Department of Medical Oncology and Therapeutics Research, City of Hope National Medical Center, 1500 E Duarte Rd, Duarte, CA 91010 (jmortimer@coh.org).

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