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Article

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

Familial cancer - 12 Aug 2025

Kehrer-Sawatzki Hildegard, Cooper David N

Abstract excerpt

SMARCB1 is a core unit of the BAF chromatin remodelling complex and its functional impairment interferes with the self-renewal and pluripotency of stem cells, lineage commitment, cellular identity and differentiation. SMARCB1 is also an important tumour suppressor gene and somatic SMARCB1 pathogenic variants (PVs) have been detected in ~ 5% of all human cancers. Additionally, germline SMARCB1 PVs have been...

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Source

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Identifiers

PMID: 40794298
DOI: 10.1007/s10689-025-00486-4
PMCID: PMC12343709

Genes

SMARCB1
NF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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