Development of Methylation Biomarkers for Clinical Applications and Methylation-sensitive High-resolution Melting (MS-HRM) Technology
Tomasz K. Wojdacz
from: Molecular Diagnostics: Current Research and Applications (Edited by: Jim Huggett and Justin O'Grady). Caister Academic Press, U.K. (2014)
Aberrations of locus specific methylation are a well-established hallmark of cancer. These epigenetic changes, in principle, cause or contribute to the pathological process, but at the same time can be utilized as biomarkers in clinical disease management. Within clinical disease management there are four fields of biomarker application: prevention, diagnosis, prognosis/prediction and treatment management. Methylation biomarkers fulfil criteria of applicability for each of these fields. However, current use of methylation biomarkers in clinical practice is very limited. The inadequate translation of research findings into clinical use in the field of methylation biomarkers can be mainly attributed to poor standardisation of the technologies for methylation biomarker discovery and screening as well as a paucity of large-scale clinical validation studies of potential biomarkers. Methylation sensitive high resolution melting (MS-HRM) is an established method enabling in-tube cost and labour efficient locus specific methylation screening. The method has been successfully utilised in clinical methylation biomarker validation studies, hence the potential application of this method in diagnostic settings is very promising. This chapter addresses the use of MS-HRM for methylation biomarker development and clinical validation, as well as potential diagnostic applicability of the method read more ...