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Article

The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome.

British journal of cancer - 27 Jan 2009

Clyne M, Offman J, Shanley S, Virgo J D, Radulovic M, Wang Y, Ardern-Jones A, Eeles R, Hoffmann E, Yu V P C C

Abstract excerpt

Germline mutations in the mismatch repair (MMR) genes are associated with Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Here, we characterise a variant of hMLH1 that confers a loss-of-function MMR phenotype. The mutation changes the highly conserved Gl...

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Share to Adaptor Proteins, Signal Transducing
Share to Colorectal Neoplasms, Hereditary Nonpolyposis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19142183
DOI: 10.1038/sj.bjc.6604860
PMCID: PMC2634701

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19142183-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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