Identifying associations between genomic alterations in tumors

Methods Mol Biol. 2013:1049:9-19. doi: 10.1007/978-1-62703-547-7_2.

Abstract

Single-nucleotide polymorphism (SNP) mapping arrays are a reliable method for identifying somatic copy number alterations in cancer samples. Though this is immensely useful to identify potential driver genes, it is not sufficient to identify genes acting in a concerted manner. In cancer cells, co-amplified genes have been shown to provide synergistic effects, and genomic alterations targeting a pathway have been shown to occur in a mutually exclusive manner. We therefore developed a bioinformatic method for detecting such gene pairs using an integrated analysis of genomic copy number and gene expression data. This approach allowed us to identify a gene pair that is co-amplified and co-expressed in high-grade serous ovarian cancer. This finding provided information about the interaction of specific genetic events that contribute to the development and progression of this disease.

MeSH terms

  • Computational Biology / methods*
  • Female
  • Gene Dosage*
  • Gene Expression Regulation, Neoplastic*
  • Genomics
  • Humans
  • Loss of Heterozygosity / genetics
  • Metabolic Networks and Pathways
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / pathology
  • Polymorphism, Single Nucleotide / genetics