DNA methylation profiling in the clinic: applications and challenges

Nat Rev Genet. 2012 Oct;13(10):679-92. doi: 10.1038/nrg3270. Epub 2012 Sep 4.


Knowledge of epigenetic alterations in disease is rapidly increasing owing to the development of genome-wide techniques for their identification. The ever-growing number of genes that show epigenetic alterations in disease emphasizes the crucial role of these epigenetic alterations - particularly DNA methylation - for future diagnosis, prognosis and prediction of response to therapies. This Review focuses on epigenetic profiling, which has started to be of clinical value in cancer and may in the future be extended to other diseases, such as neurological and autoimmune disorders.

Publication types

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

MeSH terms

  • Animals
  • Clinical Laboratory Techniques / methods*
  • Clinical Laboratory Techniques / standards
  • DNA Methylation* / physiology
  • Disease / genetics
  • Epigenesis, Genetic / physiology
  • Gene Expression Profiling* / methods
  • Gene Expression Profiling* / statistics & numerical data
  • Humans
  • Models, Biological
  • Molecular Targeted Therapy / methods
  • Molecular Targeted Therapy / trends