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Article

Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1.

Journal of medical genetics - 1 Jan 2009

Swensen J J, Keyser J, Coffin C M, Biegel J A, Viskochil D H, Williams M S

Abstract excerpt

BACKGROUND: The role of germline and somatic SMARCB1 gene mutations in malignant rhabdoid tumour (MRT) predisposition is well known. Germline SMARCB1 mutations have also recently been identified in a subset of individuals with schwannomatosis. Surprisingly, MRT predisposition and schwannomatosis have never been reported to co-occur in a family. The correlation between genotype and phenotype for mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19124645
DOI: 10.1136/jmg.2008.060152
PMCID: PMC2843150

Genes

SMARCB1

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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