Molecular basis and diagnostics of hereditary colorectal cancers

Abstract

Hereditary colorectal cancer syndromes are classified according to the presence of unusually large number of adenomatous or hamartomatous polyps, or their absence. The latter category includes hereditary non‐polyposis colorectal cancer (Lynch syndrome) and its variants Muir‐Torre and Turcot's syndromes. Adenomatous polyposis syndromes include familial adenomatous polyposis (FAP) and its variants, and the recently identified MYH‐ (mutY homolog)‐associated polyposis. Hamartomatous polyposis syndromes include juvenile polyposis, Peutz‐Jeghers syndrome, and Cowden syndrome, which is now included within the broader category ‘PTEN (phosphatase and tensin homolog) hamartoma tumour syndrome’. Other syndromes such as the ‘hereditary breast and colon cancer’ and ‘familial colorectal cancer’ are not yet fully characterized. This review addresses the molecular basis of these syndromes with particular reference to the recent advances in this rapidly progressive field and the applications of such knowledge in diagnosis and management.