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Article

A truncated hMSH2 transcript occurs as a common variant in the population: implications for genetic diagnosis.

Cancer research - 15 May 1996

Xia L, Shen W, Ritacca F, Mitri A, Madlensky L, Berk T, Cohen Z, Gallinger S, Bapat B

Abstract excerpt

Germline mutations of the hMSH2 gene are responsible for many cases of hereditary nonpolyposis colorectal cancer. While screening for hMSH2 gene mutations in hereditary nonpolyposis colorectal cancer kindreds, we observed that a previously reported germline mutation is in fact a common, alternati...

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PMID: 8625301

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-8625301-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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A truncated hMSH2 transcript occurs as a common variant in the population: implications for genetic diagnosis.PMID 8625301Read ↗

Intron splice acceptor site sequence variation in the hereditary non-polyposis colorectal cancer gene hMSH2.Semantic proximity Read ↗

Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.Semantic proximity Read ↗

MUTYH gene expression and alternative splicing in controls and polyposis patients.Semantic proximity Read ↗

Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.Semantic proximity Read ↗

Transcripts with splicings of exons 15 and 16 of the hMLH1 gene in normal lymphocytes: implications in RNA-based mutation screening of hereditary non-polyposis colorectal cancer.Semantic proximity Read ↗

Aberrant RNA splicing in the hMSH2 gene: molecular identification of three aberrant RNA in Scottish patients with colorectal cancer in the West of Scotland.Semantic proximity Read ↗

Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development.Semantic proximity Read ↗

Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis.Semantic proximity Read ↗

Identification of a one-base germline deletion (codon 888 del C) and an intron splice acceptor site polymorphism in hMSH2.Semantic proximity Read ↗

Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer.Semantic proximity Read ↗

RNA-based mutation screening in hereditary nonpolyposis colorectal cancer.Semantic proximity Read ↗

Genotype and phenotype of a new 2-bp deletion of hMSH2 at codon 233.Semantic proximity Read ↗

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