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Article

The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome.

Familial cancer - 1 Jan 2007

Stuckless Susan, Parfrey Patrick S, Woods Michael O, Cox Janet, Fitzgerald G William, Green Jane S, Green Roger C

Abstract excerpt

To compare the phenotypic expression of three different MSH2 mutations causing Lynch syndrome, 290 family members at 50% risk of inheriting a mutation were studied. Two truncating mutations of the MSH2 gene have been identified in Newfoundland: an exon 8 deletion in five families (N=74 carriers)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17039271
DOI: 10.1007/s10689-006-0014-8

Genes

MSH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17039271-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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