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Nat Genet. 2014 May;46(5):424-6. doi: 10.1038/ng.2922. Epub 2014 Mar 23.

Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.

Author information

1
1] Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York, USA. [2].
2
Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
3
Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
4
Computational Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
5
Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.

Abstract

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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PMID:
24658004
PMCID:
PMC5699446
DOI:
10.1038/ng.2922
[Indexed for MEDLINE]
Free PMC Article

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