Epigenetic alterations as cancer diagnostic, prognostic, and predictive biomarkers

Adv Genet. 2010;71:125-76. doi: 10.1016/B978-0-12-380864-6.00005-5.


Alterations of DNA methylation and transcription of microRNAs (miRNAs) are very stable phenomena in tissues and body fluids and suitable for sensitive detection. These advantages enable us to translate some important discoveries on epigenetic oncology into biomarkers for control of cancer. A few promising epigenetic biomarkers are emerging. Clinical trials using methylated CpG islands of p16, Septin9, and MGMT as biomarkers are carried out for predication of cancer development, diagnosis, and chemosensitivity. Circulating miRNAs are promising biomarkers, too. Breakthroughs in the past decade imply that epigenetic biomarkers may be useful in reducing the burden of cancer.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / genetics*
  • Biomarkers, Tumor / metabolism
  • CpG Islands / genetics
  • DNA Methylation*
  • Epigenesis, Genetic*
  • Humans
  • MicroRNAs / metabolism
  • Neoplasms / diagnosis
  • Neoplasms / prevention & control*
  • Neoplasms / therapy
  • Prognosis


  • Biomarkers, Tumor
  • MicroRNAs