The evolution of molecular diagnosis using digital polymerase chain reaction to detect cancer via cell-free DNA and circulating tumor cells

Cell Biol Int. 2020 Mar;44(3):735-743. doi: 10.1002/cbin.11286. Epub 2019 Dec 25.

Abstract

Cancer is one of the most important causes of death worldwide. The onset of cancer may be initiated due to a variety of factors such as environment, genetics or even due to personal lifestyle choices. To counteract this tremendous increase, the demand for a new technology has risen. By this means, the use of digital polymerase chain reaction (dPCR) has been shown to be a promising methodology in the early detection of many types of cancers. Furthermore, several researchers confirmed that the use of tumor cell-free DNA (cfDNA) and circulating tumor cells (CTC) in peripheral blood is essential in revealing an early prognosis of such diseases. Besides this, it was established that dPCR might be used in a much more efficient, accurate, and reliable manner to amplify a variety of genetic material up to the identification of mutations in hematological diseases. Therefore, this article demonstrates the differences between conventional PCR and dPCR as a molecular technique to detect the early onset of cancer. Furthermore, CTC and cfDNA were officially approved by the Food and Drug Administration as new biological biomarkers in cancer development and monitoring.

Keywords: cancers; cell-free DNA (cfDNA); circulating tumor cells (CTC); digital PCR; molecular diagnosis.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / blood
  • Circulating Tumor DNA / blood*
  • Circulating Tumor DNA / genetics
  • Early Detection of Cancer / methods*
  • Humans
  • Mutation
  • Neoplasms / diagnosis*
  • Neoplastic Cells, Circulating / pathology*
  • Polymerase Chain Reaction / methods*

Substances

  • Biomarkers, Tumor
  • Circulating Tumor DNA