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Clinical implementation and current advancement of blood liquid biopsy in cancer

Journal

JOURNAL OF HUMAN GENETICS
Volume 66, Issue 9, Pages 909-926

Publisher

SPRINGERNATURE
DOI: 10.1038/s10038-021-00939-5

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Liquid biopsies have become a focus in cancer diagnosis for their easy, rapid, and non-invasive nature. They can be used for disease monitoring and to overcome the limitations of tissue biopsies, particularly in cases where obtaining tumor biopsies is clinically difficult. The detection of tumor-derived circulating tumor DNA from blood samples using next generation sequencing technologies shows promise as a complementary tool to traditional tissue biopsies or tumor biomarkers.
Liquid biopsies have been receiving tremendous attentions as easy, rapid, and non-invasive tools for cancer diagnosis. Liquid biopsy can be performed repeatedly for disease monitoring and is expected to overcome the limitations of tissue biopsies. With the advancement of next generation sequencing technologies, it is now possible to detect minute amount of tumor-derived circulation tumor DNA (ctDNA) from blood samples. Importantly, ctDNA detection could be complementary to tissue biopsies or tumor biomarkers particularly in cases of which tumor biopsy is clinically difficult to obtain. Here, we introduce the up-to-date technologies used in cfDNA-based liquid biopsy and review the clinical utilities of ctDNA in cancer screening, detection of minimal residual diseases, selection of molecular-targeted drugs, as well as monitoring of treatment responsiveness. We also discuss the challenges and future perspectives of liquid biopsy implementation in clinical setting.

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