title: Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.
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.
authors.affiliation: 1] Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York, USA. [2].
authors.forename: Petar
authors.initials: P
authors.lastname: Jelinic
authors.affiliation: 1] Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York, USA. [2].
authors.forename: Jennifer J
authors.initials: JJ
authors.lastname: Mueller
authors.affiliation: Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
authors.forename: Narciso
authors.initials: N
authors.lastname: Olvera
authors.affiliation: Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
authors.forename: Fanny
authors.initials: F
authors.lastname: Dao
authors.affiliation: Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
authors.forename: Sasinya N
authors.initials: SN
authors.lastname: Scott
authors.affiliation: Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
authors.forename: Ronak
authors.initials: R
authors.lastname: Shah
authors.affiliation: Computational Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
authors.forename: JianJiong
authors.initials: J
authors.lastname: Gao
authors.affiliation: Computational Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
authors.forename: Nikolaus
authors.initials: N
authors.lastname: Schultz
authors.affiliation: Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
authors.forename: Mithat
authors.initials: M
authors.lastname: Gonen
authors.affiliation: Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
authors.forename: Robert A
authors.initials: RA
authors.lastname: Soslow
authors.affiliation: Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
authors.forename: Michael F
authors.initials: MF
authors.lastname: Berger
authors.affiliation: 1] Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York, USA. [2].
authors.forename: Douglas A
authors.identifier: 0000000310388232
authors.initials: DA
authors.lastname: Levine
mesh_terms: D001483:Base Sequence; D018288:Carcinoma, Small Cell / Q000235:genetics*; D042002:Chromatin Assembly and Disassembly / Q000235:genetics; D019295:Computational Biology; D004265:DNA Helicases / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D040461:Gene Components; 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