Epigenetics and cancer: the role of DNA methylation

• Published in: M.S. Médecine sciences Vol. 40; no. 12; p. 925
• Main Authors: Gorse, Marine, Bianchi, Charline, Proudhon, Charlotte
• Format: Journal Article
• Language: French
• Published: France 01.12.2024
• Subjects: Biomarkers, Tumor - genetics; CpG Islands - genetics; DNA Methylation; Epigenesis, Genetic - physiology; Gene Expression Regulation, Neoplastic; Humans; Neoplasms - genetics; Neoplasms - pathology
• ISSN: 1958-5381; 1958-5381
• DOI: 10.1051/medsci/2024180

Alterations in DNA methylation profiles are typically found in cancer cells, combining genome-wide hypomethylation with hypermethylation of specific regions, such as CpG islands, which are normally unmethylated. Driving effects in cancer development have been associated with alteration of DNA methylation in certain regions, inducing, for example, the repression of tumor suppressor genes or the activation of oncogenes and retrotransposons. These alterations represent prime candidates for the development of specific markers for the detection, diagnosis and prognosis of cancer. In particular, these markers, distributed along the genome, provide a wealth of information that offers potential for innovation in the field of liquid biopsy, in particular thanks to the emergence of artificial intelligence for diagnostic purposes. This could overcome the limitations related to sensitivities and specificities, which remain too low for the most difficult applications in oncology: the detection of cancers at an early stage, the monitoring of residual disease and the analysis of brain tumors. In addition, targeting the enzymatic processes that control the epigenome offers new therapeutic strategies that could reverse the regulatory anomalies of these altered epigenomes.