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Article

Recurrent germline mutation in MSH2 arises frequently de novo.

Journal of medical genetics - 1 Sept 2000

Desai D C, Lockman J C, Chadwick R B, Gao X, Percesepe A, Evans D G, Miyaki M, Yuen S T, Radice P, Maher E R, Wright F A, de La Chapelle A

Abstract excerpt

INTRODUCTION: An intronic germline mutation in the MSH2 gene, A-->T at nt942+3, interferes with the exon 5 donor splicing mechanism leading to a mRNA lacking exon 5. This mutation causes typical hereditary non-polyposis colorectal cancer (HNPCC) and has been observed in numerous probands and families world wide. Recurrent mutations either arise repeatedly de novo or emanate from ancestral founding mutational...

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Source

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Identifiers

PMID: 10978353
DOI: 10.1136/jmg.37.9.646
PMCID: PMC1734701

Genes

MSH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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