Epigenetic modifications of cfDNA in liquid biopsy for the cancer care continuum

Abstract

This review provides a comprehensive overview of the latest advancements in the clinical utility of liquid biopsy, with a particular focus on epigenetic approaches aimed at overcoming challenges in cancer diagnosis and treatment. It begins by elucidating key epigenetic terms, including methylomics, fragmentomics, and nucleosomics. The review progresses to discuss methods for analyzing circulating cell-free DNA (cfDNA) and highlights recent studies showcasing the clinical relevance of epigenetic modifications in areas such as diagnosis, drug treatment response, minimal residual disease (MRD) detection, and prognosis prediction. While acknowledging hurdles like the complexity of interpreting epigenetic data and the absence of standardization, the review charts a path forward. It advocates for the integration of multi-omic data through machine learning algorithms to refine predictive models and stresses the importance of collaboration among clinicians, researchers, and data scientists. Such cooperative efforts are essential to fully leverage the potential of epigenetic features in clinical practice.