A robust method to study cancer heterogeneity in liquid biopsy

IMAGE: a) single cells (CTCs and WBCs) from a patient affected by prostate cancer; cluster A represents 6 CTCs with small or no differences in copy number profiles; cluster B is… view more 

Credit: Fig. 8 Ferrarini A, Forcato C, Buson G, Tononi P, del Monaco V, Terracciano M, et al. (2018) A streamlined workflow for single-cells genome-wide copy-number profiling by low-pass sequencing of…

Scientists reported the development of a robust and streamlined procedure for whole-genome copy number profiling of circulating tumor cells (CTCs) from a simple blood test. In contrast to existing methods that are complex and costly, the single-tube, single-step protocol is able to detect absolute Copy Number Alterations (CNA) in single cells and maintain accuracy at a lower cost than conventional genomic analysis procedure, opening up to the possibility for genome-driven targeted therapy selection and monitoring of disease progression in liquid biopsy.

The genome of tumor cells goes through multiple aberration events which are intimately connected to the underlying tumor biology and are reflected in the CNA profile of the entire genome. Multiple recent findings across several cancer types have pointed to the fact that these pattern of aberrations are linked to increased response or resistance


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