hereditary nonpolyposis colorectal cancer


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hereditary nonpolyposis colorectal cancer

[MIM*114500]
an autosomal dominant predisposition to early-onset colorectal cancer in the absence of adenomatosis. The disease phenotype may be limited to the colorectum (Lynch syndrome I) or coexist with extracolonic tumors such as endometrial or gastric cancer among others (Lynch syndrome II). The genetic basis is in one of several genes responsible for DNA mismatch repair; in over 90% of cases, the mutation is one of two genes: MSH2 and MLH1.

he·red·i·tar·y non·pol·y·po·sis co·lo·rec·tal can·cer

(hĕr-ed'i-tar-ē non'pol-i-pō'sis kō'lŏr-ek'tăl kan'sĕr)
An autosomal dominant predisposition to cancer of the colon and rectum.
References in periodicals archive ?
The first is in hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome, where an inherited mutation in a mismatchrepair gene causes a microsatellite repeat replication error to go unfixed.
Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome.
Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res.
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.
Fishel, "The selection for mismatch repair defects in hereditary nonpolyposis colorectal cancer: Revising the mutator hypothesis," Cancer Research, vol.
Albano et al., "Hereditary nonpolyposis colorectal cancer (lynch syndromes I and II).
Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res 13: 7515-7521.
Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch Syndrome is the most common hereditary form of CRC (2-4% of all CRC) [30, 36].
Before MMR genes and their causal role in hereditary CRC cancer were identified, the International Collaborative Group on hereditary nonpolyposis colorectal cancer had established the Amsterdam criteria I in 1990.
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat.
[96.] Peltomaki P, Vasen HF (1997) Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study.

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