Abstract
Genetic and epigenetic alterations significantly contribute to development of human cancer. Genotyping tumour tissue in search for these actionable genetic and epigenetic changes has become routine practice in oncology. However, sampling tumour tissue has significant inherent limitations. It provides only a single snapshot in time, prone to selection bias due to intra-tumour heterogeneity, and cannot always be performed owing to its invasive nature. Circulating tumour DNA (ctDNA) based liquid biopsy provides an effective alternative to invasive tissue sampling and have emerged as a minimally invasive, real-time biomarker. Recent advancements in DNA sequencing technologies have revealed enormous potential of ctDNA to improve tumour detection and stratification. In this review, we critically appraise the role of ctDNA as a liquid biopsy for cancer and evaluate the role of circulating tumour DNA as a diagnostic, prognostic and predictive biomarker. We also highlight some technical challenges and constraints associated with circulating DNA analysis.
Highlights
The advent of personalised medicine has revolutionised cancer management
Circulating tumour DNA based liquid biopsy provides an effective alternative to invasive tissue sampling and have emerged as a minimally invasive, real-time biomarker
We critically appraise the role of Circulating tumour DNA (ctDNA) as a liquid biopsy for cancer and evaluate the role of circulating tumour DNA as a diagnostic, prognostic and predictive biomarker
Summary
The advent of personalised medicine has revolutionised cancer management. Advancements in genomics and transcriptomics have enabled identification of gene signatures and targets that can be used for diagnostics, prognostics, predictive and therapeutic purposes (Gonzalez de Castro et al 2013). High throughput sequential analysis of tumour samples has revealed that ITH evolves temporally under selection pressures imposed by the microenvironment and/or the cancer therapeutics (Anderson et al 2006; Hunter et al 2006; Edwards et al 2008). It implies that the historical tissue biopsy taken at the time of diagnosis might not effectively guide clinical decisions after some passage of time and should be supplemented by serial tissue sampling to account for new mutations
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