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
| Autor: | Bob Mirzai, Olivia Ruhen, Katie Meehan, Michael E. Clark, Wendy N. Erber, Bella Nguyen, Carlos Salomon |
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| Rok vydání: | 2020 |
| Předmět: |
Whole genome sequencing
liquid biopsy circulating tumour DNA biomarkers Medicine (miscellaneous) Disease Extracellular vesicle Biology medicine.disease Article General Biochemistry Genetics and Molecular Biology chemistry.chemical_compound breast cancer extracellular vesicle DNA Breast cancer lcsh:Biology (General) chemistry medicine Cancer research In patient Copy-number variation Liquid biopsy lcsh:QH301-705.5 DNA |
| Zdroj: | Biomedicines Volume 9 Issue 1 Biomedicines, Vol 9, Iss 14, p 14 (2021) |
| ISSN: | 2227-9059 |
| DOI: | 10.3390/biomedicines9010014 |
| Popis: | 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&rsquo 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. |
| Databáze: | OpenAIRE |
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