Cancer Methylation Biomarkers in Circulating Cell-Free DNA

Abstract

Screening and diagnosing tumours through circulating cell-free DNA represents an important paradigm shift in precision medicine. Molecular profiling of cellfree DNA in human blood serves as a ‘liquid biopsy’ which, in contrast to tissue biopsies, provides a minimally invasive method for predictive and prognostic marker detection, as well as early and serial assessment of metastatic disease, including follow-up during remission, characterizing treatment response, and monitoring minimal residual disease. Changes in DNA methylation are one of the earliest, most stable and frequent alterations in cancer genomes. Therefore, DNA methylation signatures have great potential as molecular biomarkers to guide clinical management of disease in many tumour types. The detection of DNA methylation signatures in cell-free DNA is an important advance in the clinical utility of liquid biopsy for diagnosis, prognosis, monitoring treatment response and tumour burden.