Estimates for established pathogenic variants vary by family history and potentially modifiable risk factors
By Elana Gotkine HealthDay Reporter
THURSDAY, Oct. 16, 2025 (HealthDay News) — Population-based estimates of cumulative breast cancer risk for established pathogenic variants (PVs) vary by family history and potentially modifiable risk factors, according to a study published online Oct. 9 in JAMA Oncology.
Katie M. O’Brien, Ph.D., from the National Institute of Environmental Health Sciences in Research Triangle Park, North Carolina, and colleagues used pooled data from 13 U.S.-based breast cancer case-control studies to examine population-based breast cancer risk estimates for those with established PVs.
The analyses included 67,692 women, of whom 33,841 were diagnosed with breast cancer. The researchers found a strong association for PVs in ATM, BRCA1, BRCA2, CHEK2, and PALB2 with breast cancer risk; heterogeneity by family history was seen for BRCA1 and PALB2 PVs. The estimated cumulative risks for breast cancer by age 50 years ranged from 2.4 percent in women with no PVs and no family history to 35.5 percent in PALB2 PV carriers with a family history in models considering PVs, family history, and established risk factors. Among women who had not been diagnosed with breast cancer by age 50 years, the corresponding cumulative risk for breast cancer by age 80 years varied from 11.1 to 70.5 percent, respectively. Across subgroups defined by race/ethnicity and potentially modifiable epidemiologic risk factors, PV-specific cumulative risk estimates varied.
“The findings from this work can help to improve risk communication so that PV carriers and their physicians can make informed decisions about screening and preventive care,” the authors write.
Several authors disclosed ties to the biopharmaceutical industry.
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