Strategies for validation and testing of DNA methylation biomarkers

Christa Noehammer, Walter Pulverer, Melanie R Hassler, Manuela Hofner, Matthias Wielscher, Klemens Vierlinger, Triantafillos Liloglou, David McCarthy, Taylor J Jensen, Anders Nygren, Henning Gohlke, Geert Trooskens, Maarten Braspenning, Wim Van Criekinge, Gerda Egger, Andreas Weinhaeusel

Research output: Contribution to journalReview articlepeer-review

27 Citations (Scopus)


DNA methylation is a stable covalent epigenetic modification of primarily CpG dinucleotides that has recently gained considerable attention for its use as a biomarker in different clinical settings, including disease diagnosis, prognosis and therapeutic response prediction. Although the advent of genome-wide DNA methylation profiling in primary disease tissue has provided a manifold resource for biomarker development, only a tiny fraction of DNA methylation-based assays have reached clinical testing. Here, we provide a critical overview of different analytical methods that are suitable for biomarker validation, including general study design considerations, which might help to streamline epigenetic marker development. Furthermore, we highlight some of the recent marker validation studies and established markers that are currently commercially available for assisting in clinical management of different cancers.

Original languageEnglish
Pages (from-to)603-22
Number of pages20
Issue number6
Publication statusPublished - 1 Dec 2014


  • Biomarkers
  • CpG Islands
  • DNA Methylation
  • Epigenesis, Genetic
  • Epigenomics/methods
  • Guidelines as Topic
  • Humans
  • Neoplasms/blood
  • Validation Studies as Topic


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