Hereditary nonpolyposis colorectal cancer

Definition:

Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is characterized by inherited predisposition to early colorectal carcinoma and extracolonic epithelia-derived tumors most often located in the gastrointestinal and urogenital tracts. HNPCC is caused by familial mutations in some of the genes responsible for DNA mismatch repair.

References:

[1]. Chang-Hua Zhang, et al. Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds. World J Gastroenterol. 2008 Jan 14;14(2):298-302. [Content Brief]

[2]. Daniel L Worthley, et al. Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. Gastroenterology. 2005 May;128(5):1431-6. [Content Brief]

[3]. Henry T Lynch, et al. Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion. Am J Gastroenterol. 2011 Oct;106(10):1829-36. [Content Brief]

[4]. J Plaschke, et al. Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome. J Med Genet. 2003 Aug;40(8):597-600. [Content Brief]

[5]. S L Lu, et al. HNPCC associated with germline mutation in the TGF-beta type II receptor gene. Nat Genet. 1998 May;19(1):17-8. [Content Brief]

[6]. Y Wu, et al. A role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat Genet. 2001 Oct;29(2):137-8. [Content Brief]

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