DNA Methylation

Our molecular diagnostic tests for cancer rely on detecting changes in DNA methylation („DNA methylation biomarkers“). DNA methylation is a natural and tightly controlled biological processinvolving the regulation of genes and the stability of the human genome. It does so by modifying cytosines by covalently adding a methyl group. DNA methylation patterns are cell-type specific (unique “fingerprints”) and vary in normal biological processes and in many diseases, especially cancer. Diagnostic tests based on the assessment of changes in DNA methylation of disease relevant biomarkers can be used for screening, diagnostic, prognostic and predictive (drug response) purposes, and can be developed as companion diagnostics (cDx).

DNA methylation lends itself to applications in molecular diagnostics in the following ways:

• it is a rich source of very sensitive and specific biomarkers for virtually any diagnostic question,
• it is a very stable covalent modification of DNA that is preserved even in formalin-fixed, paraffin-embedded tissue samples for routine histopathology,
• it can be measured in cell-free DNA circulating in the blood stream for non-invasive diagnostic tests,
• it can be tested with routine diagnostic assay technologies, which are also broadly used for infectious disease testing, such as real-time PCR.