Retrospective study of hereditary cancer testing in a diverse sample across three breast imaging centers

Up to 10% of all breast cancers are attributed to inherited pathogenic variants (PVs) in breast cancer susceptibility genes. However, most carriers of PVs remain unidentified. A cross-sectional retrospective study found pathogenic variants in breast cancer genes susceptibility genes in 2% of unselected women visiting breast imaging centers. Most of the carriers of these variants did not meet the NCCN criteria for testing of the indicated gene. The authors conclude that this population health approach extended th reach of genetic cancer risk assessment in a diverse population and highlighted the limits of a guideline-based approach.