DNA methylation deregulation is one of the major components of epigenetic reprogramming affecting many human diseases. Due to its chemical nature and the advances in technology, DNA methylation is unique for biomarker utilization. DNA methylation changes have been detected in a variety of human body fluids associated with a large number of malignant and benign diseases. This chapter summarizes the evidence from a wide range of studies in this field and demonstrates the clinical potential of DNA methylation in cancer diagnostics. The technical approaches are discussed, emphasizing on quality control issues and potential pitfalls. Finally, the lack of transferring this technology to the clinic is being discussed, highlighting key study design issues that are required for biomarker validation and clinical implementation.
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