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

Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti - 1 Jan 2012

Ilenčíková D

Abstract excerpt

This work gives comprehensive information about new recessively inherited syndrome characterized by development of childhood malignancies. Behind this new described syndrome, called Constitutional mismatch repair-deficiency syndrome (CMMR-D), there are biallelic mutations in genes, which cause adult cancer syndrom termed Lynch syndrom (Hereditary non-polyposis cancer syndrom-HNPCC) if they are heterozygous...

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Source

Identifiers

PMID: 22920205

Genes

MSH6
MLH1
MSH2
PMS2

Provenance

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[Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation].PMID 22920205Read ↗

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Coexistence of Constitutional Mismatch Repair Deficiency syndrome and Lynch syndrome in a family of seven : MSH6 mutation and childhood colorectal cancer - a case series.Semantic proximity Read ↗

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

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