Breast Cancer Gene Study Reveals Gaps in High-Risk Screening Recommendations

In a cohort study of women with pathogenic variants (PVs) in #BreastCancer genes from the WISDOM risk-based screening trial, most participants would not have been recommended for high-risk screening, such as alternating magnetic resonance imaging (MRI) and mammography every 6 months, based on clinical risk models alone or in combination with polygenic risk scores.

For high-penetrance PV carriers, less than 1% would have been assigned the same intensive surveillance using model-based or combined clinical and polygenic risk assessment as compared to PV-informed strategies.

These results indicate that population-based PV testing identifies different high-risk subgroups than clinical or polygenic risk models and support the inclusion of germline PV testing as an essential component of risk-based breast cancer screening programs.

#ASCO26
https://ja.ma/4nWoDx4