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Article

Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.

American journal of human genetics - 12 Feb 2010

Schneppenheim Reinhard, Frühwald Michael C, Gesk Stefan, Hasselblatt Martin, Jeibmann Astrid, Kordes Uwe, Kreuz Markus, Leuschner Ivo, Martin Subero Jose Ignacio, Obser Tobias, Oyen Florian, Vater Inga, Siebert Reiner

Abstract excerpt

Rhabdoid tumors of early infancy are highly aggressive with consequent poor prognosis. Most cases show inactivation of the SMARCB1 (also known as INI1 and hSNF5) tumor suppressor, a core member of the ATP-dependent SWI/SNF chromatin-remodeling complex. Familial cases, described as rhabdoid tumor...

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Source

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Identifiers

PMID: 20137775
DOI: 10.1016/j.ajhg.2010.01.013
PMCID: PMC2820190

Genes

SMARCA4
SMARCB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20137775-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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