DNA methylation biomarkers as diagnostic and prognostic tools in colorectal cancer

J Mol Med (Berl). 2013 Nov;91(11):1249-56. doi: 10.1007/s00109-013-1088-z. Epub 2013 Sep 21.


Colorectal cancer (CRC) is the third most common type of cancer and is responsible for 9 % of cancer deaths in both men and women in the USA for 2013. It is a heterogenous disease, and its three classification types are microsatellite instability, chromosomal instability, and CpG island methylator phenotype. Biomarkers are molecules, which can be used as indicators of cancer. They have the potential to achieve great sensitivities and specificities in diagnosis and prognosis of CRC. DNA methylation biomarkers are epigenetic markers, more specifically genes that become silenced after aberrant methylation of their promoter in CRC. Some methylation biomarkers like SEPT9 (ColoVantage®) and vimentin (ColoSure(TM)) are already commercially available. Other blood and fecal-based biomarkers are currently under investigation and clinical studies so that they can be used in the near future. Biomarker panels are also currently being studied since they show great potential in diagnosis as they can combine robust biomarkers to achieve even greater sensitivities than single markers. Finally, methylation-sensitive microRNAs (miRNAs) are very promising markers, and their investigation as biomarkers, is only at primitive stage.

Publication types

  • Review

MeSH terms

  • Animals
  • Biomarkers, Tumor / genetics*
  • Colon / metabolism
  • Colon / pathology
  • Colorectal Neoplasms / diagnosis*
  • Colorectal Neoplasms / genetics*
  • CpG Islands
  • DNA Methylation*
  • Epigenesis, Genetic
  • Genomic Instability
  • Humans
  • Prognosis


  • Biomarkers, Tumor