Journal of Applied Genetics

, Volume 47, Issue 4, pp 365–375 | Cite as

Epigenetic diagnostics of cancer — the application of DNA methylation markers

  • Jaroslaw Paluszczak
  • Wanda Baer-DubowskaEmail author
Review Article


In recent years it has become apparent that epigenetic events are potentially equally responsible for cancer initiation and progression as genetic abnormalities. DNA methylation is the main epigenetic modification in humans. Two DNA methylation lesions coexist in human neoplasms: hypermethylation of promoter regions of specific genes within a context of genomic hypomethylation. Aberrant methylation is found at early stages of carcinogenesis and distinct types of cancer exhibit specific patterns of methylation changes. Tumor specific DNA is readily obtainable from different clinical samples and methylation status analysis often permits sensitive disease detection. Methylation markers may also serve for prognostic and predictive purposes as they often reflect the metastatic potential and sensitivity to therapy. As current findings show a great potential of recently characterised methylation markers, more studies in the field are needed in the future. Large clinical studies of newly developed markers are especially needed. The review describes the diagnostic potential of DNA methylation markers.

Key words

cancer diagnostics DNA hypermethylation DNA hypomethylation epigenetics methylation markers 


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Copyright information

© Institute of Plant Genetics, Polish Academy of Sciences, Poznan 2006

Authors and Affiliations

  1. 1.Department of Pharmaceutical BiochemistryUniversity of Medical SciencesPoznańPoland

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