Recurrent SMARCA4 mutations in small cell carcinoma of the ovary Academic Article uri icon

Overview

MeSH Major

  • Carcinoma, Small Cell
  • DNA Helicases
  • Mutation
  • Nuclear Proteins
  • Ovarian Neoplasms
  • Transcription Factors

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.

publication date

  • January 2014

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1038/ng.2922

PubMed ID

  • 24658004

Additional Document Info

start page

  • 424

end page

  • 6

volume

  • 46

number

  • 5