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Updated: Apr 28, 2026

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Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
9.9K
Circulating tumor DNA moves further into the spotlight
Mark Sausen1, Sonya Parpart1, Luis A Diaz2
1Personal Genome Diagnostics, Baltimore, MD 21224, USA.
Genome Medicine
|June 20, 2014
Summary
Liquid biopsies analyzing circulating tumor DNA (ctDNA) detect cancer mutations from blood, eliminating the need for tissue samples. This non-invasive method shows potential for guiding cancer treatment and early detection.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Somatic genomic alterations in tumors are key to cancer development and progression.
- Traditional tumor analysis requires invasive tissue biopsies, which can be challenging or impossible in some patients.
- Circulating tumor DNA (ctDNA) in blood offers a potential alternative for genomic profiling.
Purpose of the Study:
- To assess the utility of sequencing circulating tumor DNA (ctDNA) for identifying somatic genomic alterations.
- To highlight the potential of ctDNA analysis to guide therapeutic decisions in solid tumors.
- To explore ctDNA's role in the early detection of cancer.
Main Methods:
- Sequencing of circulating tumor DNA (ctDNA) isolated from the cell-free fraction of blood samples.
- Identification of tumor-derived somatic mutations from a simple blood draw.
- Application of ctDNA analysis for both clinical and investigative purposes in oncology.
Main Results:
- ctDNA sequencing successfully identifies somatic genomic alterations without the need for tumor tissue.
- The study demonstrates the promise of ctDNA to inform treatment strategies across various solid tumors.
- ctDNA analysis shows potential as a tool for early cancer detection.
Conclusions:
- ctDNA analysis represents a minimally invasive approach for comprehensive tumor genomic profiling.
- This technique can guide personalized therapeutic decisions and aid in early cancer diagnosis.
- Liquid biopsies using ctDNA hold significant promise for advancing cancer care and research.

