Direct mutational analysis in a family with hereditary non-polyposis colorectal cancer.

doi:10.1111/j.1445-5994.1994.tb01783.x

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Article

Direct mutational analysis in a family with hereditary non-polyposis colorectal cancer.

Australian and New Zealand journal of medicine - 1 Dec 1994

Van de Water N S, Jeevaratnam P, Browett P J, Stewart S M, Lane M R, Jass J R

Abstract excerpt

BACKGROUND: It is now known that a proportion of cases of hereditary non-polyposis colorectal cancer (HNPCC) is caused by mutations in the human homologue of the yeast DNA mismatch repair gene MSH2. A proline to leucine change due to a C to T transition in codon 622 of hMSH2 has been identified in a large HNPCC family of over 240 individuals. AIM: To develop an assay to detect the family-specific mutation and...

Topics

Adolescent
Adult
Aged
Base Sequence
Codon
Colorectal Neoplasms, Hereditary Nonpolyposis
DNA Mutational Analysis
DNA Primers
Female
Genes
Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Heterozygote

Humans

Male

Middle Aged

Molecular Sequence Data

Mutation

Pedigree

Source

Open in PubMed

Identifiers

PMID: 7717919
DOI: 10.1111/j.1445-5994.1994.tb01783.x

Genes

MSH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7717919-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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