Epigenetic Profiling in Cancer: Triage, Prognosis And Precision Oncology

Banila, C et al, Epigenetic Cancer Therapy, 2nd Edition: Chapter 25, Elsevier; 2023

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Over the past decade, notable progress has been made in the field of cancer diagnosis and treatment. However, it is forecasted that cancer will become the leading cause of premature death over the course of this century.

In 2020, the World Health Organisation estimated 10 million cancer-related deaths [1], resulting in significant negative effects on patients, their families, and society at large as well as incurring a significant economic cost of $167 billion. Due to demographic shifts towards an aging population, the global cancer burden is expected to double in the next 50 years [2].

A major contributor to these losses is the frequent diagnosis of cancer at advanced stages, coupled with inadequate treatment response. Research suggests that up to 50% of cancer cases could be pre- vented through the implementation of biomarkers with strong diagnostic, prognostic, and treatment- response predictive capabilities [2].

Epigenetic alterations, including DNA methylation, histone modification, and microRNA (miRNA) regulation, have been proposed as possible biomarker candidates as they play a role in every stage of tumor formation and progression. Distinct patterns of these modifications have been reproducibly linked to specific types of cancer. This chapter aims to provide an overview of the multifaceted involvement of these signatures in carcinogenesis and to evaluate the feasibility of clinical implementation of epigenetic-based tests through examination of selected case studies.

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