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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...

Topics

Humans
Neurilemmoma
Neurofibromatoses
Genetic Testing
Skin Neoplasms
SMARCB1 Protein
Transcription Factors
Trans-Activators
Neurofibromin 2
DNA-Binding Proteins
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

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

Genes

LZTR1
NF2
SMARCB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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