Meta-analysis of clinical data using human meiotic genes identifies a novel cohort of highly restricted cancer-specific marker genes

Oncotarget. 2012 Aug;3(8):843-53. doi: 10.18632/oncotarget.580.


Identifying cancer-specific biomarkers represents an ongoing challenge to the development of novel cancer diagnostic, prognostic and therapeutic strategies. Cancer/testis (CT) genes are an important gene family with expression tightly restricted to the testis in normal individuals but which can also be activated in cancers. Here we develop a pipeline to identify new CT genes. We analysed and validated expression profiles of human meiotic genes in normal and cancerous tissue followed by meta-analyses of clinical data sets from a range of tumour types resulting in the identification of a large cohort of highly specific cancer biomarker genes, including the recombination hot spot activator PRDM9 and the meiotic cohesin genes SMC1beta and RAD21L. These genes not only provide excellent cancer biomarkers for diagnostics and prognostics, but may serve as oncogenes and have excellent drug targeting potential.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, Neoplasm / genetics*
  • Biomarkers, Tumor / genetics*
  • Cell Cycle Proteins / genetics
  • Cell Line, Tumor
  • Chromosomal Proteins, Non-Histone / genetics
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic
  • Genes, Neoplasm*
  • Histone-Lysine N-Methyltransferase / genetics
  • Humans
  • Male
  • Meiosis / genetics*
  • Oligonucleotide Array Sequence Analysis
  • Testis


  • Antigens, Neoplasm
  • Biomarkers, Tumor
  • Cell Cycle Proteins
  • Chromosomal Proteins, Non-Histone
  • REC8 protein, human
  • structural maintenance of chromosome protein 1
  • Histone-Lysine N-Methyltransferase
  • PRDM9 protein, human