Next Article in Journal
The Role of microRNAs in Mitochondria: Small Players Acting Wide
Next Article in Special Issue
Mouse ENU Mutagenesis to Understand Immunity to Infection: Methods, Selected Examples, and Perspectives
Previous Article in Journal
Functional Role of the microRNA-200 Family in Breast Morphogenesis and Neoplasia
Previous Article in Special Issue
The Revolution in Human Monogenic Disease Mapping
Article Menu

Export Article

Open AccessReview

DNA Methylation Biomarkers: Cancer and Beyond

Genetic Technologies Ltd., Fitzroy, Victoria 3065, Australia
Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria 3052, Australia
Department of Paediatrics, The University of Melbourne, Parkville, Victoria 3052, Australia
Author to whom correspondence should be addressed.
Genes 2014, 5(3), 821-864;
Received: 22 June 2014 / Revised: 17 August 2014 / Accepted: 1 September 2014 / Published: 16 September 2014
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
PDF [856 KB, uploaded 16 September 2014]


Biomarkers are naturally-occurring characteristics by which a particular pathological process or disease can be identified or monitored. They can reflect past environmental exposures, predict disease onset or course, or determine a patient’s response to therapy. Epigenetic changes are such characteristics, with most epigenetic biomarkers discovered to date based on the epigenetic mark of DNA methylation. Many tissue types are suitable for the discovery of DNA methylation biomarkers including cell-based samples such as blood and tumor material and cell-free DNA samples such as plasma. DNA methylation biomarkers with diagnostic, prognostic and predictive power are already in clinical trials or in a clinical setting for cancer. Outside cancer, strong evidence that complex disease originates in early life is opening up exciting new avenues for the detection of DNA methylation biomarkers for adverse early life environment and for estimation of future disease risk. However, there are a number of limitations to overcome before such biomarkers reach the clinic. Nevertheless, DNA methylation biomarkers have great potential to contribute to personalized medicine throughout life. We review the current state of play for DNA methylation biomarkers, discuss the barriers that must be crossed on the way to implementation in a clinical setting, and predict their future use for human disease. View Full-Text
Keywords: cancer; diabetes; obesity; smoking; stress; autism; schizophrenia; bipolar disorder; depression; environmental factors cancer; diabetes; obesity; smoking; stress; autism; schizophrenia; bipolar disorder; depression; environmental factors

Graphical abstract

This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).
Printed Edition Available!
A printed edition of this Special Issue is available here.

Share & Cite This Article

MDPI and ACS Style

Mikeska, T.; Craig, J.M. DNA Methylation Biomarkers: Cancer and Beyond. Genes 2014, 5, 821-864.

Show more citation formats Show less citations formats

Related Articles

Article Metrics

Article Access Statistics



[Return to top]
Genes EISSN 2073-4425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top