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ABSTRACT
Genetic alterations in cancers serve as useful biomarkers in evaluating diagnosis, prognosis, and therapeutics. Genotyping tumour biopsies has become a routine practice in clinical oncology; however, it can only provide a spatially and temporally limited snapshot of the tumour achieved through an invasive procedure at a single time point. Circulating tumour cells (CTCs) or cell-free circulating DNA (cfDNA) could allow both qualitative and quantitative insights on disease activity in a non-invasive manner. Such genetic testing in blood is challenging owing to the rarity of the mutant alleles and cells, but advances in diagnostics have allowed strategies for longitudinal monitoring of the genetic landscape of cancer. We review here approaches to investigate these biomarkers in the blood and discuss the corresponding insights lent to diagnostic testing, tumour heterogeneity and therapeutic guidance, with a focus on colorectal cancer.
Financial and competing interests disclosure
The authors were supported by the Institute of Bioengineering and Nanotechnology, Biomedical Research Council (Diagnostics Grant and Strategic Positioning Fund SPF 2012/003), and Agency for Science, Technology and Research, Singapore. The authors have been listed as inventors of methods of assaying circulating biomarkers in colorectal cancer in technology disclosures owned by their employer, which have been externally licensed to industries for pipeline development. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.