Laura Keller; Yassine Belloum; Harriet Wikman; Klaus Pantel · 2020 · British Journal of Cancer
Paper
Cell-free DNA (cfDNA) derived from tumours is present in the plasma of cancer patients. The majority of currently available studies on the use of this circulating tumour DNA (ctDNA) deal with the detection of mutations. The analysis of cfDNA is often discussed in the context of the noninvasive detection of mutations that lead to resistance mechanisms and therapeutic and disease monitoring in cancer patients. Indeed, substantial advances have been made in this area, with the development of methods that reach high sensitivity and can interrogate a large number of genes. Interestingly, however, cfDNA can also be used to analyse different features of DNA, such as methylation status, size fragment patterns, transcriptomics and viral load, which open new avenues for the analysis of liquid biopsy samples from cancer patients. This review will focus on the new perspectives and challenges of cfDNA analysis from mutation detection in patients with solid malignancies.
Analysis
This review discusses the clinical relevance of blood-based circulating tumor DNA (ctDNA) analysis, focusing on mutation detection for resistance and monitoring, and exploring novel avenues like methylation, fragment patterns, transcriptomics, and viral load analysis.
Discovery
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