title: Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.
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.
authors.affiliation: 1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2].
authors.forename: Pilar
authors.initials: P
authors.lastname: Ramos
authors.affiliation: 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].
authors.forename: Anthony N
authors.initials: AN
authors.lastname: Karnezis
authors.affiliation: Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
authors.forename: David W
authors.initials: DW
authors.lastname: Craig
authors.affiliation: 1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2] Department of Dermatology, Mayo Clinic, Scottsdale, Arizona, USA.
authors.forename: Aleksandar
authors.initials: A
authors.lastname: Sekulic
authors.affiliation: Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
authors.forename: Megan L
authors.initials: ML
authors.lastname: Russell
authors.affiliation: Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
authors.forename: William P D
authors.initials: WP
authors.lastname: Hendricks
authors.affiliation: Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
authors.forename: Jason J
authors.initials: JJ
authors.lastname: Corneveaux
authors.affiliation: Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
authors.forename: Michael T
authors.initials: MT
authors.lastname: Barrett
authors.affiliation: Department of Molecular Oncology, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
authors.forename: Karey
authors.initials: K
authors.lastname: Shumansky
authors.affiliation: Department of Molecular Oncology, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
authors.forename: Yidong
authors.initials: Y
authors.lastname: Yang
authors.affiliation: 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.
authors.forename: Sohrab P
authors.initials: SP
authors.lastname: Shah
authors.affiliation: Centre for Translational and Applied Genomics, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
authors.forename: Leah M
authors.initials: LM
authors.lastname: Prentice
authors.affiliation: Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
authors.forename: Marco A
authors.initials: MA
authors.lastname: Marra
authors.affiliation: Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Kiefer
authors.affiliation: Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
authors.forename: Victoria L
authors.initials: VL
authors.lastname: Zismann
authors.affiliation: Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
authors.forename: Troy A
authors.initials: TA
authors.lastname: McEachron
authors.affiliation: Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
authors.forename: Bodour
authors.initials: B
authors.lastname: Salhia
authors.affiliation: Department of Pathology, Hospital de la Santa Creu i Sant Pau, Autonomous University of Barcelona, Barcelona, Spain.
authors.forename: Jaime
authors.initials: J
authors.lastname: Prat
authors.affiliation: Department of Pathology, Hospital de la Santa Creu i Sant Pau, Autonomous University of Barcelona, Barcelona, Spain.
authors.forename: Emanuela
authors.initials: E
authors.lastname: D'Angelo
authors.affiliation: Department of Pathology, University Health Network, Toronto, Ontario, Canada.
authors.forename: Blaise A
authors.initials: BA
authors.lastname: Clarke
authors.affiliation: Department of Pediatric Hematology-Oncology, Children's Hospital of Alabama, University of Alabama at Birmingham, Birmingham, Alabama, USA.
authors.forename: Joseph G
authors.initials: JG
authors.lastname: Pressey
authors.affiliation: 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.
authors.forename: John H
authors.initials: JH
authors.lastname: Farley
authors.affiliation: Evergreen Hematology and Oncology, Spokane, Washington, USA.
authors.forename: Stephen P
authors.initials: SP
authors.lastname: Anthony
authors.affiliation: Department of Pathology, Johns Hopkins University, Baltimore, Maryland, USA.
authors.forename: Richard B S
authors.initials: RB
authors.lastname: Roden
authors.affiliation: 1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2] Department of Pathology, University of Otago, Dunedin, New Zealand.
authors.forename: Heather E
authors.initials: HE
authors.lastname: Cunliffe
authors.affiliation: 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].
authors.forename: David G
authors.initials: DG
authors.lastname: Huntsman
authors.affiliation: 1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2] [3].
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Trent
mesh_terms: D001483:Base Sequence; D018288:Carcinoma, Small Cell / Q000235:genetics*; D042002:Chromatin Assembly and Disassembly / Q000235:genetics; D002874:Chromosome Mapping; D019295:Computational Biology; D004265:DNA Helicases / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D059472:Exome / Q000235:genetics; D005260:Female; D015723:Gene Library; D006801:Humans; D007150:Immunohistochemistry; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D009687:Nuclear Proteins; D014157:Transcription Factors; C084108:SMARCA4 protein, human; D004265:DNA Helicases