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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 cell-free 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.

Keywords

  • DNA methylation
  • Epigenetics
  • Biomarkers
  • Circulating DNA
  • cfDNA
  • Cancer
  • Early detection
  • Diagnosis

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Fig. 10.1
Fig. 10.2

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Acknowledgements

We thank Madhavi Maddugoda for the preparation of figures and reviewing the manuscript. This work is supported by National Health and Medical Research Council (NHMRC) project grants (CS:APP1128912 and RP:APP1106870), Cancer Council New South Wales (CCNSW) project grant (RP: RG 18-09), National Breast Cancer Foundation IIRS Grant (CS) and Cancer Institute of New South Wales Fellowship (CINSW) to RP (14/ECF/1-23). The contents of the published material are solely the responsibility of the administering institution and individual authors and do not reflect the views of the NHMRC.

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Pidsley, R., Stirzaker, C. (2019). Cancer Methylation Biomarkers in Circulating Cell-Free DNA. In: Hesson, L., Pritchard, A. (eds) Clinical Epigenetics. Springer, Singapore. https://doi.org/10.1007/978-981-13-8958-0_10

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