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Article

MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.

Human mutation - 1 Nov 2008

Belvederesi Laura, Bianchi Francesca, Galizia Eva, Loretelli Cristian, Bracci Raffaella, Catalani Romina, Amati Monica, Cellerino Riccardo

Abstract excerpt

Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is associated with germline mutations in one of several MisMatch Repair (MMR) genes. An increasing proportion (20-25%) of the reported MSH2 variants consists of single amino-acid substitution with uncertain disease-causing significance. The present study was undertaken to functionally characterize 3 MSH2 nontruncating variants: p.Gly162Arg (c.484G>C), p.Asp167His...

Read the complete abstract on PubMed

Topics

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Share to Amino Acid Substitution
Share to Cloning, Molecular

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to DNA, Neoplasm

Share to Mutagenesis, Site-Directed

Share to Mutation, Missense

Share to MutS Homolog 2 Protein

Share to Sequence Alignment

Source

Identifiers

PMID: 18781619
DOI: 10.1002/humu.20875

Genes

MSH2
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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