Abstract

Precision oncology aims to tailor clinical decisions specifically to patients with the objective of improving treatment outcomes. This can be achieved by leveraging omics information for accurate molecular characterization of tumors. Tumor tissue biopsies are currently the main source of information for molecular profiling. However, biopsies are invasive and limited in resolving spatiotemporal heterogeneity in tumor tissues. Alternative non-invasive liquid biopsies can exploit patient’s body fluids to access multiple layers of tumor-specific biological information (genomes, epigenomes, transcriptomes, proteomes, metabolomes, circulating tumor cells, and exosomes). Analysis and integration of these large and diverse datasets using statistical and machine learning approaches can yield important insights into tumor biology and lead to discovery of new diagnostic, predictive, and prognostic biomarkers. Translation of these new diagnostic tools into standard clinical practice could transform oncology, as demonstrated by a number of liquid biopsy assays already entering clinical use. In this review, we highlight successes and challenges facing the rapidly evolving field of cancer biomarker research.Lay SummaryPrecision oncology aims to tailor clinical decisions specifically to patients with the objective of improving treatment outcomes. The discovery of biomarkers for precision oncology has been accelerated by high-throughput experimental and computational methods, which can inform fine-grained characterization of tumors for clinical decision-making. Moreover, advances in the liquid biopsy field allow non-invasive sampling of patient’s body fluids with the aim of analyzing circulating biomarkers, obviating the need for invasive tumor tissue biopsies. In this review, we highlight successes and challenges facing the rapidly evolving field of liquid biopsy cancer biomarker research.

Highlights

  • IntroductionUniversity of Denmark, 2800 Kgs. Lyngby, Denmark 6 BioInnovation Institute, Ole Maaløes Vej 3, 2200 Copenhagen, DK, Denmark and organs

  • Cancer is a class of complex diseases characterized by abnormal cellular growth and the potential to invade healthy tissuesTechnology, Kemivägen 10, Gothenburg, Sweden 4 Science for Life Laboratory, KTH Royal Institute of Technology, Stockholm, Sweden 5 Novo Nordisk Foundation Center for Biosustainability, TechnicalUniversity of Denmark, 2800 Kgs

  • The results showed that taxanes result in improved OS compared to ARS inhibitors in patients with androgen receptor (AR)-V7-positive circulating tumor cells (CTC) (HR 0.24) [122]

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Summary

Introduction

University of Denmark, 2800 Kgs. Lyngby, Denmark 6 BioInnovation Institute, Ole Maaløes Vej 3, 2200 Copenhagen, DK, Denmark and organs. Cancer survival rates vary substantially between different types of cancer, where diagnosis at late stage worsens prognosis even for treatable cancers. There is a case to be made that population-wide screening and early cancer detection might have a substantial positive impact on cancer morbidity and mortality [3]. Despite this need for earlier detection of cancer, screening tests with proven clinical utility are uncommon. Adoption of new biomarkers for early cancer diagnosis requires careful consideration of available evidence for associated benefits, costs, and potential harms [4]

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