Abstract

Our understanding of the mechanisms of cancer development and progression has improved with the application of novel techniques that allow a comprehensive molecular tumour profiling. The application of discoveries and technologies from translational research to the clinical setting has facilitated the identification of novel drug targets and treatment strategies. The term "precision medicine" refers to the application of patient-specific genetic information (germline and somatic) to select the optimal treatment for individual patients with the goal of improved therapeutic efficacy and reduced toxicity. It involves the use of biomarkers that provide unique patient- and tumour-specific molecular information. There has been a growing interest in cancer diagnostics using circulating tumour DNA as a source for tumour biomarkers. Liquid biopsy is less invasive than tumour biopsy, offering the potential to mirror the genetic diversity within a tumour, also enabling longitudinal measurements to monitor genetic changes in a tumour over time, avoiding re-biopsies. The use and improvement of these technologies will continue to advance the field of precision medicine by putting their application into standard clinical practice.

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