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Article

Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.

The Journal of molecular diagnostics : JMD - 1 Oct 2005

Hegde Madhuri, Blazo Maria, Chong Belinda, Prior Tom, Richards Carolyn

Abstract excerpt

Hereditary nonpolyposis colon cancer (HNPCC, Online Mendelian Inheritance in Man (OMIM) 114500) is an autosomal dominant disorder that is genetically heterogeneous because of underlying mutations in mismatch repair genes, primarily MLH1, MSH2, and MSH6. One challenge to correctly diagnosing HNPCC...

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Topics

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Share to Base Pair Mismatch
Share to Chromatography, High Pressure Liquid
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repair

Share to Genetic Testing

Share to MutS Homolog 2 Protein

Share to Reproducibility of Results

Share to Sensitivity and Specificity

Source

Open in PubMed Open full text

Identifiers

PMID: 16237223
DOI: 10.1016/S1525-1578(10)60584-3
PMCID: PMC1888496

Genes

MLH1
MSH2
MSH6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16237223-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.PMID 16237223Read ↗

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