Circulating Cell-Free Nucleic Acids: Main Characteristics and Clinical Application

Int J Mol Sci. 2020 Sep 17;21(18):6827. doi: 10.3390/ijms21186827.

Abstract

Liquid biopsy recently became a very promising diagnostic method that has several advantages over conventional invasive methods. Liquid biopsy may serve as a source of several important biomarkers including cell-free nucleic acids (cf-NAs). Cf-DNA is widely used in prenatal testing in order to characterize fetal genetic disorders. Analysis of cf-DNA may provide information about the mutation profile of tumor cells, while cell-free non-coding RNAs are promising biomarker candidates in the diagnosis and prognosis of cancer. Many of these markers have the potential to help clinicians in therapy selection and in the follow-up of patients. Thus, cf-NA-based diagnostics represent a new path in personalized medicine. Although several reviews are available in the field, most of them focus on a limited number of cf-NA types. In this review, we give an overview about all known cf-NAs including cf-DNA, cf-mtDNA and cell-free non-coding RNA (miRNA, lncRNA, circRNA, piRNA, YRNA, and vtRNA) by discussing their biogenesis, biological function and potential as biomarker candidates in liquid biopsy. We also outline possible future directions in the field.

Keywords: biological fluids; cell-free nucleic acids; circRNA; exosomes; liquid biopsy; lncRNA; miRNA; mtDNA; nDNA.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / blood
  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / metabolism
  • Biomarkers, Tumor / urine
  • Cell-Free Nucleic Acids / blood
  • Cell-Free Nucleic Acids / genetics*
  • Cell-Free Nucleic Acids / metabolism
  • Cell-Free Nucleic Acids / urine
  • DNA, Mitochondrial / blood
  • DNA, Mitochondrial / genetics
  • DNA, Mitochondrial / metabolism
  • DNA, Mitochondrial / urine
  • Exosomes / genetics*
  • Exosomes / metabolism
  • Female
  • Fetus / metabolism*
  • Fetus / pathology
  • Humans
  • Liquid Biopsy / methods*
  • MicroRNAs / blood
  • MicroRNAs / genetics
  • MicroRNAs / metabolism
  • Mutation
  • Precision Medicine / methods*
  • Pregnancy
  • Prognosis
  • RNA, Long Noncoding / blood
  • RNA, Long Noncoding / genetics
  • RNA, Long Noncoding / metabolism
  • RNA, Long Noncoding / urine

Substances

  • Biomarkers, Tumor
  • Cell-Free Nucleic Acids
  • DNA, Mitochondrial
  • MicroRNAs
  • RNA, Long Noncoding