New research on genetic testing for breast cancer risk

A new study, published December 12 in JAMA Internal Medicine, has identified that genetic testing could benefit women who do not currently qualify for it under breast cancer screening guidelines.

The study reveals that nearly 1 in 38 women without a personal history of breast cancer carry a pathogenic mutation in a breast cancer susceptibility gene. Of those with a mutation, 30% do not have traditional family history risk factors. The findings challenge current guidelines that limit genetic testing to women with strong family histories or specific ancestries tied to breast cancer risk.

Study senior author is Lisa Madlensky, Ph.D., professor of medicine at the University of California San Diego School of Medicine and director of the Family Center Genetics Program at Moores Cancer Center at UC San Diego Health.

The research, which is part of the larger Women Informed to Screen Depending on Measures of Risk (WISDOM) Study, demonstrates that genetic testing can potentially identify a substantial number of women with clinically actionable results who would otherwise be missed.

More information:
Kirkpatrick B. Fergus et al, Germline Pathogenic Variants Among Women Without a History of Breast Cancer, JAMA Internal Medicine (2025). DOI: 10.1001/jamainternmed.2025.7323

Provided by University of California - San Diego