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Article

Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.

Nature genetics - 1 May 2014

Jelinic Petar, Mueller Jennifer J, Olvera Narciso, Dao Fanny, Scott Sasinya N, Shah Ronak, Gao JianJiong, Schultz Nikolaus, Gonen Mithat, Soslow Robert A, Berger Michael F, Levine Douglas A

Abstract excerpt

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare, highly aggressive form of ovarian cancer primarily diagnosed in young women. We identified inactivating biallelic SMARCA4 mutations in 100% of the 12 SCCOHT tumors examined. Protein studies confirmed loss of SMARCA4 expression, suggesting a key role for the SWI/SNF chromatin-remodeling complex in SCCOHT.

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Share to Carcinoma, Small Cell
Share to Chromatin Assembly and Disassembly

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24658004
DOI: 10.1038/ng.2922
PMCID: PMC5699446

Genes

SMARCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.PMID 24658004Read ↗

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Dual loss of the SWI/SNF complex ATPases SMARCA4/BRG1 and SMARCA2/BRM is highly sensitive and specific for small cell carcinoma of the ovary, hypercalcaemic type.Semantic proximity Read ↗

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