The recent identification of genetic defects responsible for hereditary nonpolyposis colon cancer (HNPCC), together with the refinement and dissemination of techniques that allow the diagnosis of germline DNA mismatch repair defects, has revolutionized the management of this disease. In particular, accurate genotypic identification allows tailoring of colorectal resection in HNPCC patients with established carcinoma, and refinement of strategies of surveillance and prophylaxis prior to malignant transformation. Recent studies have helped to clarify the risk of malignant transformation within specific risk groups. The creation of collaborative registries should allow further clarification of risk factors for intestinal and extraintestinal malignancies.
ASJC Scopus subject areas