Cell-free DNA diagnostics: Current and emerging applications in oncology

Penn Muluhngwi, Roland Valdes, Rafael Fernandez-Botran, Eric Burton, Brian Williams, Mark W. Linder

Research output: Contribution to journalReview articlepeer-review

12 Scopus citations


Liquid biopsy is a noninvasive dynamic approach for monitoring disease over time. It offers advantages including limited risks of blood sampling, opportunity for more frequent sampling, lower costs and theoretically non-biased sampling compared with tissue biopsy. There is a high degree of concordance between circulating tumor DNA mutations versus primary tumor mutations. Remote sampling of circulating tumor DNA can serve as viable option in clinical diagnostics. Here, we discuss the progress toward broad adoption of liquid biopsy as a diagnostic tool and discuss knowledge gaps that remain to be addressed.

Original languageEnglish (US)
Pages (from-to)367-380
Number of pages14
Issue number5
StatePublished - Apr 2019
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2019 2019 Future Medicine Ltd.


  • cfDNA
  • clonal hematopoiesis
  • colorectal cancer
  • ctDNA
  • digital PCR
  • liquid biopsy
  • massively parallel sequencing (MPS)
  • melanoma
  • methylation


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