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Related Experiment Video

Updated: May 3, 2026

Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
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Liquid biopsies: genotyping circulating tumor DNA.

Luis A Diaz1, Alberto Bardelli

  • 1Luis A. Diaz Jr, Swim Across America Laboratory and Ludwig Center for Cancer Genetics and Therapeutics, Johns Hopkins University School of Medicine, Baltimore, MD; and Alberto Bardelli, Institute for Cancer Research and Treatment at Candiolo, University of Torino, Candiolo, and the Fondazione Italiana per la Ricerca sul Cancro Institute of Molecular Oncology, Milan, Italy.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|January 23, 2014
PubMed
Summary

Analyzing cell-free DNA (cfDNA) offers a less invasive method for detecting tumor mutations. This liquid biopsy approach overcomes limitations of tissue sampling, enabling real-time monitoring of cancer dynamics.

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Area of Science:

  • Oncology
  • Molecular Biology
  • Genomics

Background:

  • Tumor tissue genotyping for somatic genetic alterations is standard in clinical oncology.
  • Limitations of tumor tissue biopsies include being a single snapshot, tumor heterogeneity, and difficulty in acquisition.
  • Circulating cell-free DNA (cfDNA) levels correlate with tumor staging and prognosis.

Purpose of the Study:

  • To explore the utility of genotyping cfDNA for detecting somatic genomic alterations.
  • To highlight cfDNA as a liquid biopsy for clinical and investigational applications.

Main Methods:

  • Genotyping of cfDNA for somatic genomic alterations.
  • Analysis of cfDNA for tumor mutations using advanced DNA analysis techniques.

Main Results:

  • Advances in DNA analysis enable sensitive and accurate genotyping of cfDNA.
  • Detection and quantification of tumor mutations in cfDNA are feasible.
  • cfDNA analysis provides actionable information for clinical oncology.

Conclusions:

  • Liquid biopsy using cfDNA genotyping overcomes limitations of traditional tumor tissue sampling.
  • cfDNA analysis allows for real-time tracking of tumor dynamics.
  • This approach offers new clinical and investigational possibilities in oncology.