Self-Study 2026: Cancer Screenings & Genetic Syndromes

Hereditary cancer syndromes (HCSs) account for approximately 10% of all cancers and are caused by inherited pathogenic variants in tumor suppressor or oncogenes that increase lifetime cancer risk. Advances in next-generation sequencing and multigene panel testing have expanded the identification of individuals with inherited cancer susceptibility beyond traditional family history-based approaches, enabling more comprehensive risk assessment and personalized management. Common syndromes include hereditary breast and ovarian cancer syndrome (HBOC), associated with pathogenic variants in BRCA1, BRCA2, PALB2, ATM, and CHEK2, and Lynch syndrome, caused by mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, and PMS2). Identification of these syndromes has important implications for cancer prevention, surveillance, treatment selection, and cascade testing of at-risk family members. Guideline-directed screening, risk-reduction strategies, and multidisciplinary care, including genetic counseling before and after germline testing, are essential to optimize outcomes and reduce cancer-related morbidity and mortality.