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

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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Carcinoma, Small Cell / genetics*
  • Chromatin Assembly and Disassembly / genetics
  • Chromosome Mapping
  • Computational Biology
  • DNA Helicases / genetics*
  • DNA, Complementary / genetics
  • Electrophoresis, Polyacrylamide Gel
  • Exome / genetics
  • Female
  • Gene Library
  • Humans
  • Immunohistochemistry
  • Molecular Sequence Data
  • Mutation / genetics*
  • Nuclear Proteins / genetics*
  • Ovarian Neoplasms / genetics*
  • Sequence Analysis, DNA
  • Transcription Factors / genetics*

Substances

  • DNA, Complementary
  • Nuclear Proteins
  • Transcription Factors
  • SMARCA4 protein, human
  • DNA Helicases