Recent advances on gene-related DNA methylation in cancer diagnosis, prognosis, and treatment: a clinical perspective

Abstract Recent advances in screening programs and the development of innovative therapeutic strategies have significantly improved the clinical outcomes of cancer patients. However, many patients still experience treatment failure, primarily due to inherent or acquired drug resistance mechanisms. T...

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Main Authors: Alessandro Lavoro, Daria Ricci, Giuseppe Gattuso, Federica Longo, Graziana Spoto, Anastasia Cristina Venera Vitale, Maria Chiara Giuliana, Luca Falzone, Massimo Libra, Saverio Candido
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Clinical Epigenetics
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Online Access:https://doi.org/10.1186/s13148-025-01884-2
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author Alessandro Lavoro
Daria Ricci
Giuseppe Gattuso
Federica Longo
Graziana Spoto
Anastasia Cristina Venera Vitale
Maria Chiara Giuliana
Luca Falzone
Massimo Libra
Saverio Candido
author_facet Alessandro Lavoro
Daria Ricci
Giuseppe Gattuso
Federica Longo
Graziana Spoto
Anastasia Cristina Venera Vitale
Maria Chiara Giuliana
Luca Falzone
Massimo Libra
Saverio Candido
author_sort Alessandro Lavoro
collection DOAJ
description Abstract Recent advances in screening programs and the development of innovative therapeutic strategies have significantly improved the clinical outcomes of cancer patients. However, many patients still experience treatment failure, primarily due to inherent or acquired drug resistance mechanisms. This challenge underscores the urgent need for novel therapeutic targets for the effective treatment of malignancies, as well as cancer-specific biomarkers to enhance early diagnosis and guide interventions. Epigenetic mechanisms, including DNA methylation, have recently garnered growing interest as key regulators of gene expression under both physiological and pathological conditions. Although epigenetic dysregulations are reliable tumor hallmarks, DNA methylation is still not routinely integrated into clinical practice, highlighting the need for further research to translate preclinical findings from the bench to the bedside. On these bases, the present review aims to illustrate the state of the art regarding the role of DNA methylation in cancer, describing the technologies currently available for DNA methylation profiling. Furthermore, the latest evidence on the application of DNA methylation hotspots in cancer diagnosis and prognosis, as well as the impact of epidrugs in cancer care, is discussed to provide a comprehensive overview of the potential clinical relevance of DNA methylation in advancing personalized medicine.
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publishDate 2025-05-01
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spelling doaj-art-cbe4e88cb30d4cf3a761075c9c29b0ec2025-08-20T01:49:47ZengBMCClinical Epigenetics1868-70832025-05-0117114210.1186/s13148-025-01884-2Recent advances on gene-related DNA methylation in cancer diagnosis, prognosis, and treatment: a clinical perspectiveAlessandro Lavoro0Daria Ricci1Giuseppe Gattuso2Federica Longo3Graziana Spoto4Anastasia Cristina Venera Vitale5Maria Chiara Giuliana6Luca Falzone7Massimo Libra8Saverio Candido9Department of Biomedical and Biotechnological Sciences, University of CataniaDepartment of Biomedical and Biotechnological Sciences, University of CataniaDepartment of Biomedical and Biotechnological Sciences, University of CataniaDepartment of Biomedical and Biotechnological Sciences, University of CataniaDepartment of Biomedical and Biotechnological Sciences, University of CataniaDepartment of Biomedical and Biotechnological Sciences, University of CataniaDepartment of Biomedical and Biotechnological Sciences, University of CataniaDepartment of Biomedical and Biotechnological Sciences, University of CataniaDepartment of Biomedical and Biotechnological Sciences, University of CataniaDepartment of Biomedical and Biotechnological Sciences, University of CataniaAbstract Recent advances in screening programs and the development of innovative therapeutic strategies have significantly improved the clinical outcomes of cancer patients. However, many patients still experience treatment failure, primarily due to inherent or acquired drug resistance mechanisms. This challenge underscores the urgent need for novel therapeutic targets for the effective treatment of malignancies, as well as cancer-specific biomarkers to enhance early diagnosis and guide interventions. Epigenetic mechanisms, including DNA methylation, have recently garnered growing interest as key regulators of gene expression under both physiological and pathological conditions. Although epigenetic dysregulations are reliable tumor hallmarks, DNA methylation is still not routinely integrated into clinical practice, highlighting the need for further research to translate preclinical findings from the bench to the bedside. On these bases, the present review aims to illustrate the state of the art regarding the role of DNA methylation in cancer, describing the technologies currently available for DNA methylation profiling. Furthermore, the latest evidence on the application of DNA methylation hotspots in cancer diagnosis and prognosis, as well as the impact of epidrugs in cancer care, is discussed to provide a comprehensive overview of the potential clinical relevance of DNA methylation in advancing personalized medicine.https://doi.org/10.1186/s13148-025-01884-2DNA methylationDifferential methylated regionCancerBiomarkerEpigeneticsTherapeutic target
spellingShingle Alessandro Lavoro
Daria Ricci
Giuseppe Gattuso
Federica Longo
Graziana Spoto
Anastasia Cristina Venera Vitale
Maria Chiara Giuliana
Luca Falzone
Massimo Libra
Saverio Candido
Recent advances on gene-related DNA methylation in cancer diagnosis, prognosis, and treatment: a clinical perspective
Clinical Epigenetics
DNA methylation
Differential methylated region
Cancer
Biomarker
Epigenetics
Therapeutic target
title Recent advances on gene-related DNA methylation in cancer diagnosis, prognosis, and treatment: a clinical perspective
title_full Recent advances on gene-related DNA methylation in cancer diagnosis, prognosis, and treatment: a clinical perspective
title_fullStr Recent advances on gene-related DNA methylation in cancer diagnosis, prognosis, and treatment: a clinical perspective
title_full_unstemmed Recent advances on gene-related DNA methylation in cancer diagnosis, prognosis, and treatment: a clinical perspective
title_short Recent advances on gene-related DNA methylation in cancer diagnosis, prognosis, and treatment: a clinical perspective
title_sort recent advances on gene related dna methylation in cancer diagnosis prognosis and treatment a clinical perspective
topic DNA methylation
Differential methylated region
Cancer
Biomarker
Epigenetics
Therapeutic target
url https://doi.org/10.1186/s13148-025-01884-2
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