Lynch Syndrome I

Description

Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome I, or site-specific colonic cancer, and (2) Lynch syndrome II, or extracolonic cancer, particularly carcinoma of the stomach, endometrium (see {608089}), biliary and pancreatic system, and urinary tract (Lynch and Lynch, 1979; Lynch et al., 1985; Mecklin and Jarvinen, 1991). HNPCC disorders show a proclivity to early onset, predominant proximal location of colon cancer, a dominant pattern of inheritance, an excess of multiple primary cancers, and significantly improved survival when compared stage for stage with the American College of Surgeons Audit Series.Lynch et al. (1991) estimated that hereditary nonpolyposis colorectal cancer accounts for about 4 to 6% of colorectal cancer. The minimum criterion of HNPCC is that colorectal carcinoma is diagnosed and histologically verified in at least 3 relatives belonging to 2 or more successive generations. Moreover, the age of onset should be less than 50 years in at least 1 patient.The Muir-Torre syndrome (MRTES ) is a form of Lynch syndrome II associated with sebaceous skin tumors. Genetic Heterogeneity of HNPCCHNPCC is a genetically heterogeneous disease. See also HNPCC2 (OMIM ), caused by mutation in the MLH1 gene (OMIM ); HNPCC4 (OMIM ), caused by mutation in the PMS2 gene (OMIM ); HNPCC5 (OMIM ), caused by mutation in the MSH6 gene (OMIM ); HNPCC6 (OMIM ), caused by mutation in the TGFBR2 gene (OMIM ); HNPCC7 (OMIM ), caused by mutation in the MLH3 gene (OMIM ). HNPCC8 (OMIM ) results from epigenetic silencing of MSH2 caused by deletion of 3-prime exons of the EPCAM gene (OMIM ) and intergenic regions directly upstream of the MSH2 gene.Since defects in the MSH2 gene may account for as many as 60% of HNPCC cases, and defects in the MLH1 gene may play a role in up to 30%, defects in these 2 genes likely account for the vast majority of HNPCC cases.

Clinical Features

• Neoplasm
• Carcinoma
• Leukemia
• Neoplasm of the skin
• Breast carcinoma
• Sarcoma
• Colon cancer
• Ovarian neoplasm
• Neoplasm of the pancreas
• Prostate cancer

And another 7 symptoms. If you need more information about this disease we can help you.