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.

Farlex Partner Medical Dictionary © Farlex 2012

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.

Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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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.

PCR: a versatile tool--from detecting genetic diseases and cancers to monitoring stability after bone marrow transplants

Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome.

Accurate Pan-Cancer Molecular Diagnosis of Microsatellite Instability by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing

Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res.

Colorectal Carcinomas With Isolated Loss of PMS2 Staining by Immunohistochemistry

New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.

Pattern of mismatch repair protein loss and its clinicopathological correlation in colorectal cancer in North India

Fishel, "The selection for mismatch repair defects in hereditary nonpolyposis colorectal cancer: Revising the mutator hypothesis," Cancer Research, vol.

Microsatellite Instability in Mouse Models of Colorectal Cancer

Albano et al., "Hereditary nonpolyposis colorectal cancer (lynch syndromes I and II).

Postradiation Histiocytic Sarcoma in the Setting of Muir-Torre Syndrome

Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res 13: 7515-7521.

MLH1 -93G>A and I219V polymorphisms are susceptible to increased risk of sporadic colorectal cancer in a Turkish population

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.

Novel Implications in Molecular Diagnosis of Lynch Syndrome

Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat.

Prevalence of Colorectal Adenocarcinoma in Northern Regions of Pakistan: A Cross Sectional Study

[96.] Peltomaki P, Vasen HF (1997) Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study.

Anticancer activities of resveratrol in colorectal cancer