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BMC Medicine

, 15:75

Translational Oncology


Characterizing and monitoring tumor genomes with blood samples could achieve significant improvements in precision medicine. As tumors shed parts of themselves into the circulation, analyses of circulating tumor cells, circulating tumor DNA, and tumor-derived exosomes, often referred to as -liquid biopsies-, may enable tumor genome characterization by minimally invasive means. Indeed, multiple studies have described how molecular information about parent tumors can be extracted from these components. Here, we briefly summarize current technologies and then elaborate on emerging novel concepts that may further propel the field. We address normal and detectable mutation levels in the context of our current knowledge regarding the gradual accumulation of mutations during aging and in light of technological limitations. Finally, we discuss whether liquid biopsies are ready to be used in routine clinical practice.

KeywordsCell-free DNA Circulating tumor DNA Circulating tumor cells Liquid biopsy Disease monitoring Precision medicine AbbreviationsCAPP-Seqcancer personalized profiling by deep sequencing

CDXsCTC-derived explants

cfDNAcirculating free DNA

CTCscirculating tumor cells

ctDNAcirculating tumor DNA

EGFRepidermal growth factor receptor


NGSnext-generation sequencing

NSCLCnon-small cell lung cancer

SCLCsmall cell lung cancer

SCNAssomatic copy number alterations

TSStranscription start site

Autor: Samantha Perakis - Michael R. Speicher

Fuente: https://link.springer.com/

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