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Article

MSH6 missense mutations are often associated with no or low cancer susceptibility.

British journal of cancer - 4 Oct 2004

Kariola R, Hampel H, Frankel W L, Raevaara T E, de la Chapelle A, Nyström-Lahti M

Abstract excerpt

Mismatch repair (MMR) deficiency in tumours from patients with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome is mainly caused by mutations in the MLH1, MSH2, and MSH6 genes. A major challenge in the clinical management of patients with suspected HNPCC is the frequent occurrence of missense mutations in MSH6. These can be considered neither deleterious nor clinically innocent a priori. To assess...

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Source

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Identifiers

PMID: 15354210
DOI: 10.1038/sj.bjc.6602129
PMCID: PMC2409912

Genes

MSH6
MSH2
MLH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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