Hereditary Cancer Syndromes

This chapter provides answers to practice-based questions with case studies covering the new principles of diagnosis, classification, staging, treatment, and outcomes in the rapidly advancing field of hereditary cancer syndromes. The past 25 years have witnessed the identification of several hereditary cancer syndromes associated with the inheritance of a germline pathogenic variant that predisposes to certain types of cancer. Characteristics of inherited cancers are early age at onset, multiple cancers in an individual, and the same cancers occurring in relatives over several generations. The advantages of undergoing genetic testing include a more precise estimate of personal risk, more intense surveillance or risk-reducing surgeries, and benefit to other family members. In addition to testing tumor tissues to identify genetic variants that may guide therapy, pathology labs are now adding germline testing to tumor testing to maximize the yield of genetic information.