Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Common Name(s)

Colorectal Cancer, Hereditary Nonpolyposis, Type 1, Lynch syndrome I

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 ({51:Lynch and Lynch, 1979}; {53:Lynch et al., 1985}; {59: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. {49: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; {158320}) is a form of Lynch syndrome II associated with sebaceous skin tumors. Genetic Heterogeneity of HNPCC HNPCC is a genetically heterogeneous disease. See also HNPCC2 ({609310}), caused by mutation in the MLH1 ({120436}); HNPCC4 ({614337}), caused by mutation in the PMS2 gene ({600259}); HNPCC5 ({614350}), caused by mutation in the MSH6 gene ({600678}); HNPCC6 ({614331}), caused by mutation in the TGFBR2 gene ({190182}); HNPCC7 ({614385}), caused by mutation in the MLH3 gene ({604395}). HNPCC8 ({613244}) results from epigenetic silencing of MSH2 caused by deletion of 3-prime exons of the EPCAM gene ({185535}) 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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Colorectal Cancer, Hereditary Nonpolyposis, Type 1" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pancreatic Cancer Early Detection Program
 

Status: Recruiting

Condition Summary: Pancreatic Cancer; Pancreas Cancer; Pancreatic Adenocarcinoma; Familial Pancreatic Cancer; BRCA 1/2; HNPCC; Lynch Syndrome; Hereditary Pancreatitis; FAMMM; Familial Atypical Multiple Mole Melanoma; Peutz Jeghers Syndrome

 

Last Updated: 30 Jul 2014

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