The translational potential of circulating tumour DNA in oncology

Clin Biochem. 2015 Oct;48(15):957-61. doi: 10.1016/j.clinbiochem.2015.04.005. Epub 2015 Apr 15.


The recent understanding of tumour heterogeneity and cancer evolution in response to therapy has raised questions about the value of historical or single site biopsies for guiding treatment decisions. The ability of ctDNA analysis to reveal de novo mutations (i.e., without prior knowledge), allows monitoring of clonal heterogeneity without the need for multiple tumour biopsies. Additionally, ctDNA monitoring of such heterogeneity and novel mutation detection will allow clinicians to detect resistant mechanisms early and tailor treatment therapies accordingly. If ctDNA can be used to detect low volume cancerous states, it will have important applications in treatment stratification post-surgery/radical radiotherapy and may have a role in patient screening. Mutant cfDNA can also be detected in other bodily fluids that are easily accessible and may aid detection of rare mutant alleles in certain cancer types. This article outlines recent advances in these areas.

Keywords: Blood; Cancer; Circulating nucleic acids; DNA; Next generation sequencing; Oncology; Plasma; Urine.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Antineoplastic Agents / therapeutic use
  • Biomarkers / analysis
  • Biomarkers / blood
  • Biomarkers / chemistry
  • Biomarkers / urine
  • DNA, Neoplasm / analysis
  • DNA, Neoplasm / blood*
  • DNA, Neoplasm / chemistry
  • DNA, Neoplasm / urine
  • Drug Resistance, Neoplasm
  • Early Detection of Cancer* / adverse effects
  • Early Detection of Cancer* / trends
  • Genetic Testing* / trends
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Medical Oncology / methods*
  • Medical Oncology / trends
  • Molecular Diagnostic Techniques / trends
  • Mutation*
  • Neoplasms / diagnosis*
  • Neoplasms / drug therapy
  • Neoplasms / genetics
  • Neoplasms / metabolism
  • Precision Medicine* / trends
  • Sequence Analysis, DNA / trends
  • Translational Research, Biomedical / trends


  • Antineoplastic Agents
  • Biomarkers
  • DNA, Neoplasm