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Article

Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations.

Journal of medical genetics - 1 Jul 2007

Scott Richard H, Homfray Tessa, Huxter Nicola L, Mitton Sally G, Nash Ruth, Potter Mike N, Lancaster Donna, Rahman Nazneen

Abstract excerpt

Familial non-Hodgkin lymphoma (NHL) is rare and in most cases, no underlying cause is identifiable. We report homozygous truncating mutations in the mismatch repair gene MSH2 (226C-->T; Q76X) in three siblings who each developed T-cell NHL in early childhood. All three children had hyperpigmented and hypopigmented skin lesions. Constitutional biallelic MSH2 mutations have previously been reported in five...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17601929
DOI: 10.1136/jmg.2007.048942
PMCID: PMC2597999

Genes

MSH2
MLH1
MSH6
PMS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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