Advances in Circulating Tumor DNA Analysis

Adv Clin Chem. 2017:80:73-153. doi: 10.1016/bs.acc.2016.11.005. Epub 2017 Jan 3.

Abstract

The analysis of cell-free circulating tumor DNA (ctDNA) is a very promising tool and might revolutionize cancer care with respect to early detection, identification of minimal residual disease, assessment of treatment response, and monitoring tumor evolution. ctDNA analysis, often referred to as "liquid biopsy" offers what tissue biopsies cannot-a continuous monitoring of tumor-specific changes during the entire course of the disease. Owing to technological improvements, efforts for the establishment of preanalytical and analytical benchmark, and the inclusion of ctDNA analyses in clinical trial, an actual clinical implementation has come within easy reach. In this chapter, recent advances of the analysis of ctDNA are summarized starting from the discovery of cell-free DNA, to methodological approaches and the clinical applicability.

Keywords: Assessment of treatment response; Cell-free circulating tumor DNA; Identification of minimal residual disease; Monitoring tumor evolution; Predictive; Prognostic biomarker; ctDNA.

MeSH terms

  • Biomarkers, Tumor / blood
  • Biomarkers, Tumor / genetics
  • DNA, Neoplasm / blood
  • DNA, Neoplasm / genetics
  • Genetic Markers
  • Humans
  • Mutation
  • Neoplasms / diagnosis*
  • Neoplasms / genetics*
  • Predictive Value of Tests

Substances

  • Biomarkers, Tumor
  • DNA, Neoplasm
  • Genetic Markers