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Article

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.

European journal of human genetics : EJHG - 1 May 2006

Plaschke Jens, Linnebacher Michael, Kloor Matthias, Gebert Johannes, Cremer Friedrich W, Tinschert Sigrid, Aust Daniela E, von Knebel Doeberitz Magnus, Schackert Hans K

Abstract excerpt

Heterozygous germline mutations in the human mismatch repair (MMR) genes MLH1, PMS2, MSH2 and MSH6 predispose to the hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Biallelic mutations in these genes have been reported for a limited number of cases resulting in hematological malignancies, brain tumors and gastrointestinal tumors early in childhood. These tumor phenotypes are frequently associated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16418736
DOI: 10.1038/sj.ejhg.5201568

Genes

MSH6
MLH1
MSH2
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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