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Article

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Human mutation - 1 Jan 2011

Kansikas Minttu, Kariola Reetta, Nyström Minna

Abstract excerpt

In order to assess whether variations affecting DNA mismatch repair (MMR) genes are pathogenic and hence predisposing to Lynch syndrome (LS), a three-step assessment model has been proposed. Where LS is suspected based on family history, STEP1 is dedicated to the identification of the causative MMR gene and the variation within it. Thereafter, in STEP2 of the assessment model, the effect of the variation on the...

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Source

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Identifiers

PMID: 21120944
DOI: 10.1002/humu.21409
PMCID: PMC3058133

Genes

MLH1
MSH2
MSH6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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