Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas Academic Article uri icon

Overview

MeSH Major

  • Cholangiocarcinoma
  • Liver Neoplasms
  • Mutation, Missense
  • Nuclear Proteins
  • Transcription Factors
  • Tumor Suppressor Proteins
  • Ubiquitin Thiolesterase

abstract

  • Through exomic sequencing of 32 intrahepatic cholangiocarcinomas, we discovered frequent inactivating mutations in multiple chromatin-remodeling genes (including BAP1, ARID1A and PBRM1), and mutation in one of these genes occurred in almost half of the carcinomas sequenced. We also identified frequent mutations at previously reported hotspots in the IDH1 and IDH2 genes encoding metabolic enzymes in intrahepatic cholangiocarcinomas. In contrast, TP53 was the most frequently altered gene in a series of nine gallbladder carcinomas. These discoveries highlight the key role of dysregulated chromatin remodeling in intrahepatic cholangiocarcinomas.

authors

publication date

  • December 2013

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC4013720

Digital Object Identifier (DOI)

  • 10.1038/ng.2813

PubMed ID

  • 24185509

Additional Document Info

start page

  • 1470

end page

  • 3

volume

  • 45

number

  • 12