The genetics of hereditary colon cancer.
The genetic basis of sporadic colorectal cancer has illuminated our knowledge of human cancer genetics. This has been facilitated and catalyzed by an appreciation and deep understanding of the forms of colorectal cancer that harbor an inherited predisposition, including familial adenomatous polyposis (FAP), hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome, the hamartomatous polyposis syndromes, and certain other rare syndromes. Identification of germline mutations in pivotal genes underlying the inherited forms of colorectal cancer has yielded many dividends, including functional dissection of critical molecular pathways that have been revealed to be important in development, cellular homeostasis, and cancer; new approaches in chemoprevention, molecular diagnostics and genetic testing, and therapy; and underscoring genotypic-phenotypic relationships.
Rustgi
Anil K
AK
Dapartment of Medicine (Gastrointestinal), University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA. anil2@mail.med.upenn.edu
D011125:Adenomatous Polyposis Coli / Q000235:genetics; D003110:Colonic Neoplasms / Q000209:etiology / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D015179:Colorectal Neoplasms / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D053843:DNA Mismatch Repair; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008957:Models, Genetic; D009386:Neoplastic Syndromes, Hereditary / Q000209:etiology / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010580:Peutz-Jeghers Syndrome / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics; D013577:Syndrome