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Article

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.

Pediatric blood & cancer - 1 Jan 2011

Eaton Katherine W, Tooke Laura S, Wainwright Luanne M, Judkins Alexander R, Biegel Jaclyn A

Abstract excerpt

BACKGROUND: Germline mutations and deletions of SMARCB1/INI1 in chromosome band 22q11.2 predispose patients to rhabdoid tumor and schwannomatosis. Previous estimates suggested that 15-20% of rhabdoid tumors were caused by an underlying germline abnormality of SMARCB1. However, these studies were limited by case selection and an inability to detect intragenic deletions and duplications. PROCEDURE: One hundred...

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Share to Chromosomal Proteins, Non-Histone
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21108436
DOI: 10.1002/pbc.22831
PMCID: PMC3086793

Genes

SMARCB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.PMID 21108436Read ↗

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