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Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.
Ramos, Pilar; Karnezis, Anthony N; Craig, David W; Sekulic, Aleksandar; Russell, Megan L; Hendricks, William P D; Corneveaux, Jason J; Barrett, Michael T; Shumansky, Karey; Yang, Yidong; Shah, Sohrab P; Prentice, Leah M; Marra, Marco A; Kiefer, Jeffrey; Zismann, Victoria L; McEachron, Troy A; Salhia, Bodour; Prat, Jaime; D'Angelo, Emanuela; Clarke, Blaise A; Pressey, Joseph G; Farley, John H; Anthony, Stephen P; Roden, Richard B S; Cunliffe, Heather E; Huntsman, David G; Trent, Jeffrey M.
Affiliation
  • Ramos P; 1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2].
  • Karnezis AN; 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].
  • Craig DW; Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Sekulic A; 1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2] Department of Dermatology, Mayo Clinic, Scottsdale, Arizona, USA.
  • Russell ML; Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Hendricks WP; Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Corneveaux JJ; Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Barrett MT; Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Shumansky K; Department of Molecular Oncology, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
  • Yang Y; Department of Molecular Oncology, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
  • Shah SP; 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.
  • Prentice LM; Centre for Translational and Applied Genomics, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
  • Marra MA; Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
  • Kiefer J; Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Zismann VL; Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • McEachron TA; Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Salhia B; Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Prat J; Department of Pathology, Hospital de la Santa Creu i Sant Pau, Autonomous University of Barcelona, Barcelona, Spain.
  • D'Angelo E; Department of Pathology, Hospital de la Santa Creu i Sant Pau, Autonomous University of Barcelona, Barcelona, Spain.
  • Clarke BA; Department of Pathology, University Health Network, Toronto, Ontario, Canada.
  • Pressey JG; Department of Pediatric Hematology-Oncology, Children's Hospital of Alabama, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Farley JH; 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.
  • Anthony SP; Evergreen Hematology and Oncology, Spokane, Washington, USA.
  • Roden RB; Department of Pathology, Johns Hopkins University, Baltimore, Maryland, USA.
  • Cunliffe HE; 1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2] Department of Pathology, University of Otago, Dunedin, New Zealand.
  • Huntsman DG; 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].
  • Trent JM; 1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2] [3].
Nat Genet ; 46(5): 427-9, 2014 May.
Article in En | MEDLINE | ID: mdl-24658001
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ovarian Neoplasms / Transcription Factors / Nuclear Proteins / Carcinoma, Small Cell / DNA Helicases / Mutation Type of study: Prognostic_studies Limits: Female / Humans Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2014 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ovarian Neoplasms / Transcription Factors / Nuclear Proteins / Carcinoma, Small Cell / DNA Helicases / Mutation Type of study: Prognostic_studies Limits: Female / Humans Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2014 Document type: Article