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

Funders

Funding Information: https://www.mdpi.com/2227-9059/9/1/14/htm

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

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

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.

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