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Article

Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.

International journal of cancer - 1 Aug 2008

Ollila Saara, Dermadi Bebek Denis, Greenblatt Marc, Nyström Minna

Abstract excerpt

Hereditary non-polyposis colorectal cancer (HNPCC) is associated with germline mutations in mismatch repair (MMR) genes. Inherited missense mutations, however, complicate the diagnostics because they do not always cause unambiguous predisposition to cancer. This leads to variable and contradictory interpretations of their pathogenicity. Here, we establish evidence for the functionality of the 2 frequently...

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Source

Identifiers

PMID: 18470917
DOI: 10.1002/ijc.23573

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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Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.PMID 18470917Read ↗

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