Authors: Saletti, Piercarlo (Institute of Oncology of Southern Switzerland, Bellinzona, Switzerland)
Abstract: Cancer is a genetic disease. Most cancer-causing mutations are somatic, occurring in the affected tissue during the course of carcinogenesis. However, most cancers also have an hereditary component that is caused by predisposing mutations that affect the germline, are heritable and contribute to the initiation of carcinogenesis. Colorectal cancer is probably the condition for which the most is known about the genes affected by cancer-causing mutations, their normal functions and their carcinogenic effects when mutated. Hereditary colorectal cancer syndromes are classified according to the presence of unusually large number of adenomatous or hamartomatous polyps. The polyposis syndromes include Familial Adenomatous Polyposis and its variants. The hamartomatous polyposis syndromes include juvenile polyposis, Peutz-Jeghers syndrome, and Cowden syndrome. More common than any of the polyposis syndromes is the Hereditary Non- Polyposis Colorectal Cancer. This chapter addresses the molecular basis of these syndromes with particular emphasis to the recent advances in this rapidly progressive field and the applications of such knowledge in developing new diagnostic, preventive and therapeutic strategies.