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Article

Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes.

Biochemical Society transactions - 1 Aug 2005

de Vos M, Hayward B, Bonthron D T, Sheridan E

Abstract excerpt

The MMR (DNA mismatch repair) system helps to maintain the integrity of the genome. This involves eliminating base-base mismatches and insertion/deletion loops, which can lead to microsatellite instability, as seen in tumour cells. Hereditary non-polyposis colon cancer is the result of dominant mutations in MMR genes, such as MLH1, MSH2 and MSH6. More recently there have been case reports of biallelic mutations...

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Topics

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Share to Adenosine Triphosphatases
Share to Base Pair Mismatch
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repair

Share to DNA Repair Enzymes

Share to Genes, Recessive

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Share to Mismatch Repair Endonuclease PMS2

Source

Identifiers

PMID: 16042583
DOI: 10.1042/BST0330718

Genes

MLH1
MSH2
MSH6
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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