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Article

Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome.

Journal of medical genetics - 1 Jun 2009

Kratz C P, Holter S, Etzler J, Lauten M, Pollett A, Niemeyer C M, Gallinger S, Wimmer K

Abstract excerpt

BACKGROUND: Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterised by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1). Alluding to the underlying genetic defect, we refer to this syndrome as constitutional mismatch repair-deficiency (CMMR-D) syndrome. The tumour spectrum of CMMR-D syndrome...

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Adenosine Triphosphatases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19293170
DOI: 10.1136/jmg.2008.064212

Genes

PMS2
MLH1
MSH2
MSH6

Provenance

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Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome.PMID 19293170Read ↗

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The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young IndividualsSemantic proximity Read ↗

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)Semantic proximity Read ↗

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.Semantic proximity Read ↗

[Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation].Semantic proximity Read ↗

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