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Article

Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies.

Familial cancer - 24 Nov 2025

Smith Miriam J

Abstract excerpt

The three major schwannomatosis genes, NF2, LZTR1 and SMARCB1, are all located within approximately 9 megabases on chromosome 22 and cause three genetically distinct conditions with significant clinical phenotypic overlap. All forms of schwannomatosis predispose to the development of multiple schwannomas, but display differences in tumour location and long-term prognosis. In addition, high levels of mosaic...

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Source

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Identifiers

PMID: 41284083
DOI: 10.1007/s10689-025-00507-2
PMCID: PMC12644159

Genes

LZTR1
NF2
SMARCB1

Provenance

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