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Nat Genet. 2014 May;46(5):427-9. doi: 10.1038/ng.2928. Epub 2014 Mar 23.

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.

Author information

1
1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2].
2
1] Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada. [2] Centre for Translational and Applied Genomics, British Columbia Cancer Agency, Vancouver, British Columbia, Canada. [3].
3
Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
4
1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2] Department of Dermatology, Mayo Clinic, Scottsdale, Arizona, USA.
5
Department of Molecular Oncology, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
6
1] Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada. [2] Department of Molecular Oncology, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
7
Centre for Translational and Applied Genomics, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
8
Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
9
Department of Pathology, Hospital de la Santa Creu i Sant Pau, Autonomous University of Barcelona, Barcelona, Spain.
10
Department of Pathology, University Health Network, Toronto, Ontario, Canada.
11
Department of Pediatric Hematology-Oncology, Children's Hospital of Alabama, University of Alabama at Birmingham, Birmingham, Alabama, USA.
12
Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Creighton University School of Medicine and St. Joseph's Hospital and Medical Center, Phoenix, Arizona, USA.
13
Evergreen Hematology and Oncology, Spokane, Washington, USA.
14
Department of Pathology, Johns Hopkins University, Baltimore, Maryland, USA.
15
1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2] Department of Pathology, University of Otago, Dunedin, New Zealand.
16
1] Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada. [2] Centre for Translational and Applied Genomics, British Columbia Cancer Agency, Vancouver, British Columbia, Canada. [3] [4].
17
1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2] [3].

Abstract

Small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) is an extremely rare, aggressive cancer affecting children and young women. We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 75% (9/12) of SCCOHT cases in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors but in only 0.4% (2/485) of other primary ovarian tumors. These data implicate SMARCA4 in SCCOHT oncogenesis.

Comment in

PMID:
24658001
PMCID:
PMC4332808
DOI:
10.1038/ng.2928
[Indexed for MEDLINE]
Free PMC Article

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