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Genes 2014, 5(3), 821-864; doi:10.3390/genes5030821

DNA Methylation Biomarkers: Cancer and Beyond

1
Genetic Technologies Ltd., Fitzroy, Victoria 3065, Australia
2
Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria 3052, Australia
3
Department of Paediatrics, The University of Melbourne, Parkville, Victoria 3052, Australia
*
Author to whom correspondence should be addressed.
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)
View Full-Text   |   Download PDF [856 KB, uploaded 16 September 2014]   |  

Abstract

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
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This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

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

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