Screening and Surveillance for Familial Adenomatous Polyposis and Hereditary Nonpolyposis Colorectal Cancer

摘要

Familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) are domi-nantly inherited genetic disorders characterized by a significantly increased risk of colorectal cancer (CRC) and disordered growth in upper intestinal and extra-intestinal sites. Clinical screening examinations, typically by fiberoptic endoscopy, along with genetic testing by using molecular techniques as specific as direct mutational analysis, can accurately identify high-risk patients. Current surveillance strategies are directed at the early recognition of metachronous colorectal neoplasms and associated extracolonic manifestations in an effort to reduce cancer incidence and mortality in affected individuals. As our understanding of the genetic basis and natural history of these hereditary disorders continues to expand, strategies for presymptomatic diagnosis, screening, and surveillance will continue to evolve.