Strategies for validation and testing of DNA methylation biomarkers. (December 2014)

• Record Type: Journal Article
• Authors: Noehammer, Christa; Pulverer, Walter; Hassler, Melanie R; Hofner, Manuela; Wielscher, Matthias; Vierlinger, Klemens; Liloglou, Triantafillos; McCarthy, David; Jensen, Taylor J; Nygren, Anders; Gohlke, Henning; Trooskens, Geert; Braspenning, Maarten; Van Criekinge, Wim; Egger, Gerda; Weinhaeusel, Andreas
• Is Part Of: Epigenomics. Volume 6:Number 6(2014)
• Page Start: 603
• Page End: 622
• Publication Date: 2014-12
• Subjects: assay validation -- biomarker -- bisulfite-deamination -- circulating free DNA -- deep sequencing -- DNA methylation -- MALDI -- qPCR -- pyrosequencing; Epigenesis -- Periodicals; Genomics -- Periodicals; Chromatin -- Periodicals; DNA -- Periodicals; 572.87
• DOI: 10.2217/epi.14.43
• Languages: English
• ISSNs: 1750-1911

Abstract

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.