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Updated: Jul 18, 2026

Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
Published on: September 9, 2020
Circulating nucleic acids (CNAs) and cancer--a survey
1Charité, Universitätsmedizin Berlin, Medizinische Klinik mS Onkologie u Hämatologie, CCM, Charitéplatz 1, 10117 Berlin, Germany. michael.fleischhacker@charite.de
Extracellular nucleic acids in blood, including tumor-derived circulating nucleic acids (CNAs), can be detected. These CNAs reveal tumor-specific DNA and RNA alterations, paving the way for early cancer detection.
Area of Science:
- Biochemistry
- Molecular Biology
- Oncology
Background:
- Extracellular nucleic acids (CNAs) are detectable in human plasma and serum.
- CNAs of tumor origin have been unequivocally proven.
- Tumor-associated alterations at DNA and RNA levels are detectable in CNAs.
Purpose of the Study:
- To confirm and extend observations on circulating nucleic acids.
- To investigate tumor-associated alterations in DNA and RNA.
- To lay the foundation for early cancer detection assays.
Main Methods:
- Detection of point mutations.
- Analysis of microsatellite alterations.
- Identification of chromosomal alterations (inversion, deletion).
- Assessment of promoter hypermethylation.
- Quantification of tumor-associated gene overexpression.
Main Results:
- Demonstrated detection of various DNA alterations (point mutations, microsatellite, chromosomal, hypermethylation).
- Showed overexpression of tumor-associated genes at the RNA level.
- Confirmed the presence of tumor-specific markers in circulating nucleic acids.
Conclusions:
- Circulating nucleic acids (CNAs) harbor detectable tumor-specific alterations.
- These findings support the development of novel diagnostic tools.
- Potential for early cancer detection and other clinical applications exists.
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