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Article

Novel susceptibility genes for non-NF2-/LZTR1-/SMARCB1-related hereditary schwannomatosis.

Familial cancer - 25 Nov 2025

Nogué Clara, Salvador Lluis, Hasselblatt Martin, Rivera Barbara

Abstract excerpt

Schwannomatosis refers to a group of rare genetic syndromes characterized by a predisposition to develop nerve sheath tumors, specifically schwannomas. Although germline and mosaic (described in the NF2 gene) pathogenic variants in NF2, SMARCB1, and LZTR1 account for the majority of cases, a subset of affected individuals remains without a definitive molecular diagnosis, including those associated with 22q loss...

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Source

Identifiers

PMID: 41286185
DOI: 10.1007/s10689-025-00508-1

Genes

NF2
LZTR1
SMARCB1
CDKN2A
DGCR8
SMARCA4
SOX10

Provenance

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