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Article

Functional analysis of HNPCC-related missense mutations in MSH2.

Mutation research - 14 Oct 2008

Lützen Anne, de Wind Niels, Georgijevic Dubravka, Nielsen Finn Cilius, Rasmussen Lene Juel

Abstract excerpt

Hereditary nonpolyposis colorectal cancer (HNPCC) is associated with germline mutations in the human DNA mismatch repair (MMR) genes, most frequently MSH2 and MLH1. The majority of HNPCC mutations cause truncations and thus loss of function of the affected polypeptide. However, a significant proportion of MMR mutations found in HNPCC patients are single amino acid substitutions and the functional consequences of...

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Source

Identifiers

PMID: 18822302
DOI: 10.1016/j.mrfmmm.2008.08.015

Genes

MSH2
EXO1
MLH1
MSH6

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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