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Cancers
Special Issues
Circulating Tumour DNA and Liquid Biopsy in Oncology
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Circulating Tumour DNA and Liquid Biopsy in Oncology

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Biomarkers".

Deadline for manuscript submissions: 15 January 2026 | Viewed by 106

Special Issue Editors

Dr. Yafeng Ma

E-Mail Website
Guest Editor
South West Sydney Obstetric Research Unit, Ingham Institute of Applied Medical Research, Liverpool, NSW 2170, Australia
Interests: liquid biopsy; cancer biomarkers; circulating tumor cells; cancer cell biology; molecular biology
Special Issues, Collections and Topics in MDPI journals
Dr. Kevin Spring

E-Mail Website
Guest Editor
1. Western Sydney University, Liverpool, NSW 2170, Australia
2. Medical Oncology Group, Ingham Institute for Applied Medical Research, Liverpool, NSW 2170, Australia
Interests: liquid biopsy; cancer biomarkers; circulating tumor cells; cancer cell biology; molecular biology

Special Issue Information

Dear Colleagues,

Cell-free DNAs are short genetic fragments released through cell death or secretion. They are found in whole blood, urine, cerebrospinal fluid (CSF), and other body fluids that can be used in liquid biopsy. Cell-free-DNA-based liquid biopsy, due to its minimal invasiveness and repeatability, has been gradually used as an alternative post-treatment prognostic biomarker in cancer management.

Circulating tumour DNAs (ctDNA) carry genetic and epigenetic clues from parental tumour cells, providing information on mutation and methylation status; therefore, they are useful tools in early detection, the detection of minimal residual disease (MRD), and the real-time monitoring of acquired therapeutic resistance. Furthermore, cfDNA and ctDNA fragment sizes, end-point patterns, and characters (fragmentomics) enable the early detection, screening, and diagnosis of multiple cancer types. Advances in circulating tumour DNA and liquid biopsy in oncology can facilitate clinical implementation.

For this dedicated Special Issue, we invite the submission of research articles and review manuscripts on circulating tumour DNA. Emerging ctDNA detection and characterization strategies and studies on other liquid biopsy entities (circulating tumour cells, extracellular vesicles) are also welcome, provided that they share high-quality data. 

Dr. Yafeng Ma
Dr. Kevin Spring
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • cell-free DNA
  • circulating tumour DNA
  • liquid biopsy
  • mutation status
  • tumour mutational burden
  • methylation detection
  • fragmentomics
  • minimal residual disease
  • early detection

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Published Papers (1 paper)

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Research

18 pages, 1937 KiB  
Article
Applications for Circulating Cell-Free DNA in Oral Squamous Cell Carcinoma: A Non-Invasive Approach for Detecting Structural Variants, Fusions, and Oncoviruses
by Mahua Bhattacharya, Dan Yaniv, Dylan P. D’Souza, Eyal Yosefof, Sharon Tzelnick, Rajesh Detroja, Tal Wax, Adva Levy-Barda, Gideon Baum, Aviram Mizrachi, Gideon Bachar and Milana Frenkel Morgenstern
Cancers 2025, 17(12), 1901; https://doi.org/10.3390/cancers17121901 - 6 Jun 2025
Abstract
Background: Circulating cell-free DNA (cfDNA) has been widely used as a prognostic marker for different cancers. Objective: In this study, we used 30 cfDNA samples from oral squamous cell carcinoma (OSCC), 199 public OSCC samples, and 192 normal samples to study various [...] Read more.
Background: Circulating cell-free DNA (cfDNA) has been widely used as a prognostic marker for different cancers. Objective: In this study, we used 30 cfDNA samples from oral squamous cell carcinoma (OSCC), 199 public OSCC samples, and 192 normal samples to study various correlation factors that could improve the early-stage diagnostics and/or prognosis of OSCC. Methods: The statistical correlation between healthy and OSCC patients was done and deep sequencing analyses was performed to study various genomic alterations likes copy number variation (CNV), and single nucleotide variants (SNVs), gene fusion and genomic integration of viruses. Results: We found that the OSCC patient cfDNA concentration can serve as an indicator of tumor stage, malignancy, and survival prognosis. Deep genome sequencing of cfDNA revealed genomic alterations, such as CNVs, fusion genes, and viral integrations. The CNV analysis suggested a correlation with amplification and deletion in chromosomes at loci 1q, 2q, 3p, 3q, and chromosome 8 at loci q22. Moreover, at these loci, amplification of TP53, PIK3CA, and other genes related to keratinization in OSCC patients was observed. In addition, we identified a novel abundant fusion gene, TRMO-TRNT1 ‘chimera’, in seven high-grade tumor samples. The parental genes of this chimera, TRMO and TRNT1, are known to play roles in tRNA modification and DNA repair, respectively. We have identified SNVs in our OSCC cohort. Some of these SNVs, like KMT2C, MUC3A, and MUC6, have been identified as common cases in different cancer populations. Finally, we detected contigs integrations of human papillomavirus, simian virus, and enterovirus in the OSCC samples, which may point to the potential causes of OSCC. Conclusions: Our results indicate that the liquid biopsy technique may thus serve as a sensitive tool to study OSCC patient genomic alterations by exploring cfDNA circulating in the plasma, providing an easy-to-use blood test in the future. Full article
(This article belongs to the Special Issue Circulating Tumour DNA and Liquid Biopsy in Oncology)
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