title: DNA methylation testing and marker validation using PCR: diagnostic applications.
abstract: DNA methylation provides a fundamental epigenetic mechanism to establish and promote cell-specific gene-expression patterns, which are inherited by subsequent cell generations. Thus, the epigenome determines the differentiation into a cell lineage but can also program cells to become abnormal or malignant. In humans, different germline and somatic diseases have been linked to faulty DNA methylation. In this article, we will discuss the available PCR-based technologies to assess differences in DNA methylation levels mainly affecting 5-methylcytosine in the CpG dinucleotide context in hereditary syndromal and somatic pathological conditions. We will discuss some of the current diagnostic applications and provide an outlook on how DNA methylation-based biomarkers might provide novel tools for diagnosis, prognosis or patient stratification for diseases such as cancer.
authors: Clinical Institute of Pathology, Medical University of Vienna, Austria.
authors: Gerda
authors: G
authors: Egger
authors: Matthias
authors: M
authors: Wielscher
authors: Walter
authors: W
authors: Pulverer
authors: Albert
authors: A
authors: Kriegner
authors: Andreas
authors: A
authors: Weinhäusel
mesh_terms: D044503:5-Methylcytosine / Q000378:metabolism*; D015415:Biomarkers / Q000032:analysis; D002454:Cell Differentiation / Q000235:genetics; D018899:CpG Islands / Q000235:genetics*; D019175:DNA Methylation / Q000235:genetics*; D044127:Epigenesis, Genetic; D015972:Gene Expression Regulation, Neoplastic; D005854:Germ Cells; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods; D009369:Neoplasms / Q000175:diagnosis / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*
chemical_list: D015415:Biomarkers; D044503:5-Methylcytosine