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Article

A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots.

Cancer research - 15 Jan 2002

Whiteside Darcy, McLeod Ross, Graham Gail, Steckley Jamie L, Booth Karen, Somerville Martin J, Andrew Susan E

Abstract excerpt

Individuals with a germ-line mutation in one of the DNA mismatch repair (MMR) genes are at significant risk for colorectal cancer and other tumors. Three families have previously been reported with individuals homozygous for mutations in the MMR gene MLH1 that are predicted to compromise MMR. These individuals develop hematological malignancies and/or neurofibromatosis type 1 at an early age. Here, in an...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11809679

Genes

MSH2
MLH1

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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A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots.PMID 11809679Read ↗

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Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.Semantic proximity Read ↗

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Somatic deletions of genes regulating MSH2 protein stability cause DNA mismatch repair deficiency and drug resistance in human leukemia cells.Semantic proximity Read ↗

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