4.7 Article

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

期刊

BIOMEDICINES
卷 9, 期 1, 页码 -

出版社

MDPI
DOI: 10.3390/biomedicines9010014

关键词

breast cancer; biomarkers; extracellular vesicle DNA; circulating tumour DNA; liquid biopsy

资金

  1. Ada Bartholomew Trust
  2. Zonta Club of Peel
  3. Lions Medical Research Foundation
  4. National Health and Medical Research Council
  5. Medical Research Future Fund (MRFF)
  6. Fondo Nacional de Desarrollo Cientifico y Tecnologico [FONDECYT 1170809]
  7. Australian Government Research Training Program
  8. Richard Walter Gibbon Medical Research Fund
  9. Cancer Council of Western Australia

向作者/读者索取更多资源

Increasing recognition of ctDNA as a non-invasive alternative for molecular characterisation and disease monitoring. Limited research on the relationship between EV DNA and ctDNA, with ctDNA showing greater sensitivity in monitoring breast cancer progression.
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.

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