Abstract

Molecular profiling of liquid biopsies is now emerging as pivotal for cancer biomarker discovery. The low-invasive nature of the approach used for collecting biospecimens (i.e. blood, urine, saliva, etc.) may allow a widespread application of novel molecular diagnostics based on liquid biopsies. This is relevant, for example, in cancer screening programmes where it is essential to reduce costs and the complexity of screening tests in order to increase study compliance and effectiveness. Here, I discuss recent advances in biomarkers for the early cancer detection and prediction of chemotherapy response based on the molecular profiling of liquid biopsies.

Highlights

  • Despite significant improvements in the detection and treatment of cancer made in recent decades, which have had a positive impact on the overall survival of cancer patients [1], the prognosis of patients with advanced cancer remains poor [1]

  • Lung cancer offers a prototypical example, while patients diagnosed with early-stage lung tumours have a 5-year survival rate of ~40–50% [1], and up to ~90% for computerised tomography (CT)-detected stage-I tumour [2], the 5-year relative survival rate drops to 4–26% when the cancer is diagnosed at an advanced stage (~85% of all cases) [1]

  • The unfavourable prognosis of patients with advanced lung cancer is due to the metastatic spread of cancer cells to the regional or distant organs, which cannot be completely eradicated by surgery or multimodal therapy

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Summary

Introduction

Despite significant improvements in the detection and treatment of cancer made in recent decades, which have had a positive impact on the overall survival of cancer patients [1], the prognosis of patients with advanced cancer (i.e. with regional or distant metastases) remains poor [1]. Recent results from large trials for the early detection of lung cancer showed a 20% reduction of mortality in individuals who underwent screening [14]. The molecular profile of liquid biopsies (i.e. blood, urine, saliva) is an attractive field for cancer biomarkers discovery, both for the relative low invasivity of the procedure for collecting material and for the possibility to obtain multiple samples from the same patients at different times.

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