Author Identifier
Michael Edward Clark
ORCID: 0000-0002-9748-5221
Document Type
Journal Article
Publication Title
Biomedicines
Volume
9
Issue
1
First Page
1
Last Page
9
Publisher
MDPI
School
School of Medical and Health Sciences
RAS ID
38836
Funders
Funding Information: https://www.mdpi.com/2227-9059/9/1/14/htm
Abstract
© 2020 by the authors. Licensee MDPI, Basel, Switzerland. There is increasing recognition of circulating tumour DNA (ctDNA) as a non-invasive alternative to tumour tissue for the molecular characterisation and monitoring of disease. Recent evidence suggests that cancer-associated changes can also be detected in the DNA contained within extracellular vesicles (EVs). As yet, there has been limited investigation into the relationship between EV DNA and ctDNA, and no studies have examined the EV DNA of breast cancer patients. The aim of this study was to use low-pass whole-genome sequencing to identify copy number variants (CNVs) in serial samples of both ctDNA and EV DNA from a patient with breast cancer. Of the 52 CNVs identified in tumour DNA, 36 (69%) were detected in at least one ctDNA sample and 13 (25%) in at least one EV DNA sample. The number of detectable variants in ctDNA and EV DNA increased over the natural history of the patient’s disease, which was associated with progression to cerebral metastases. This case study demonstrates that, while CNVs are detectable in patient EV DNA, ctDNA has greater sensitivity than EV DNA for serial monitoring of breast cancer.
DOI
10.3390/biomedicines9010014
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.
Included in
Diseases Commons, Medical Molecular Biology Commons, Translational Medical Research Commons
Comments
Ruhen, O., Mirzai, B., Clark, M. E., Nguyen, B., Salomon, C., Erber, W., & Meehan, K. (2021). Comparison of circulating tumour DNA and extracellular vesicle DNA by low-pass whole-genome sequencing reveals molecular drivers of disease in a breast cancer patient. Biomedicines, 9(1), article 14. https://doi.org/10.3390/biomedicines9010014