Genome-wide transcriptional sequencing identifies novel mutations in metabolic genes in human hepatocellular carcinoma

Cancer Genomics Proteomics. 2014 Jan-Feb;11(1):1-12.

Abstract

We report on next-generation transcriptome sequencing results of three human hepatocellular carcinoma tumor/tumor-adjacent pairs. This analysis robustly examined ∼12,000 genes for both expression differences and molecular alterations. We observed 4,513 and 1,182 genes demonstrating 2-fold or greater increase or decrease in expression relative to their normal, respectively. Network analysis of expression data identified the Aurora B signaling, FOXM1 transcription factor network and Wnt signaling pathways pairs being altered in HCC. We validated as differential gene expression findings in a large data set containing of 434 liver normal/tumor sample pairs. In addition to known driver mutations in TP53 and CTNNB1, our mutation analysis identified non-synonymous mutations in genes implicated in metabolic diseases, i.e. diabetes and obesity: IRS1, HMGCS1, ATP8B1, PRMT6 and CLU, suggesting a common molecular etiology for HCC of alternative pathogenic origin.

Keywords: Hepatocellular carcinoma (HCC); RNA-seq; gene expression; mutation.

MeSH terms

  • Carcinoma, Hepatocellular / genetics*
  • Carcinoma, Hepatocellular / metabolism*
  • DNA Mutational Analysis
  • DNA, Neoplasm / genetics
  • Gene Expression
  • Genome-Wide Association Study
  • Humans
  • Liver Neoplasms / genetics*
  • Liver Neoplasms / metabolism*
  • Mutation
  • RNA, Neoplasm / genetics
  • Transcriptome

Substances

  • DNA, Neoplasm
  • RNA, Neoplasm