[Epigenetics and cancer: the role of DNA methylation].

IF 0.6 4区医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL M S-medecine Sciences Pub Date : 2024-12-01 Epub Date: 2024-12-20 DOI:10.1051/medsci/2024180

Marine Gorse, Charline Bianchi, Charlotte Proudhon

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引用次数: 0

Abstract

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.

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[表观遗传学与癌症：DNA 甲基化的作用]。

DNA 甲基化图谱的改变通常出现在癌细胞中，包括全基因组的低甲基化和特定区域的高甲基化，如 CpG 岛，这些区域通常是未甲基化的。癌症发展的驱动效应与某些区域 DNA 甲基化的改变有关，例如，这些改变会导致肿瘤抑制基因的抑制或致癌基因和逆转录转座子的激活。这些改变是开发用于癌症检测、诊断和预后的特异性标记物的主要候选对象。特别是由于用于诊断目的的人工智能的出现，这些分布在基因组中的标记物提供了丰富的信息，为液体活检领域的创新提供了潜力。这可以克服灵敏度和特异性方面的限制，因为灵敏度和特异性对于肿瘤学中最困难的应用来说仍然太低：早期癌症检测、残留疾病监测和脑肿瘤分析。此外，针对控制表观基因组的酶过程提供了新的治疗策略，可以逆转这些改变了的表观基因组的调控异常。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

M S-medecine Sciences 医学-医学：研究与实验

CiteScore

0.80

自引率

14.30%

发文量

182

审稿时长

4-8 weeks

期刊介绍： m/s offers high-quality review articles in French, covering all areas of biomedical and health research, in a monthly magazine format (10 issues / year). m/s is read by the whole French-speaking community, in France but also in Belgium, Switzerland, Canada, Morocco, Algeria, Tunisia etc. m/s is not a primary publication, and thus will not consider unpublished data. Most articles are invited by the Editors, but spontaneous proposals are welcomed. Each issue combines news and views on the most recent scientific publications, as well as broadly accessible and updated review articles on a specific topic, and essays on science and society, history of science, public health, or reactions to published articles. Each year, m/s also publishes one or two thematic issues focused on a research topic of high interest. All review articles and essays are peer-reviewed.