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Disease Markers
Volume 23, Issue 1-2, Pages 89-96

Cancer Diagnosis, Risk Assessment and Prediction of Therapeutic Response by Means of DNA Methylation Markers

Heidi Fiegl1,2 and Karim Elmasry1

1Translational Research Laboratory, Department of Gynaecological Oncology, Institute of Women’s Health, UCL, London, UK
2Biocentre Innsbruck, Division of Cell Biology, Medical University Innsbruck, Austria

Received 18 January 2007; Accepted 18 January 2007

Copyright © 2007 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Epigenetic alterations are heritable changes in gene expression without an accompanying change in primary DNA sequence. Two major mechanisms that cause epigenetic changes are post-translational histone modifications and DNA methylation at cytosine bases within a CpG dinucleotide. Epigenetic defects have turned out to be one of the most common molecular alterations in human neoplasia. Promoter hypermethylation is associated with loss of expression of tumour suppressor genes in cancer. The analysis of aberrant DNA methylation is gaining strength in the fields of cancer risk assessment, diagnosis, and therapy monitoring in different cancer types. These issues are discussed in this review.