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Article

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis.

BMC neurology - 24 Jan 2011

Rousseau Guillaume, Noguchi Tetsuro, Bourdon Violaine, Sobol Hagay, Olschwang Sylviane

Abstract excerpt

BACKGROUND: Schwannomatosis is a disease characterized by multiple non-vestibular schwannomas. Although biallelic NF2 mutations are found in schwannomas, no germ line event is detected in schwannomatosis patients. In contrast, germline mutations of the SMARCB1 (INI1) tumor suppressor gene were described in familial and sporadic schwannomatosis patients. METHODS: To delineate the SMARCB1 gene contribution, the...

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Source

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Identifiers

PMID: 21255467
DOI: 10.1186/1471-2377-11-9
PMCID: PMC3037869

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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