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鉴定用于乳腺癌患者早期诊断及治疗反应的游离循环表观基因组生物标志物。

Identification of cell-free circulating epigenomic biomarkers for early diagnosis and response to therapies in breast cancer patients.

作者信息

Ratre Pooja, Thareja Suresh, Mishra Pradyumna Kumar

机构信息

Division of Environmental Biotechnology, Genetics & Molecular Biology (EBGMB), ICMR-National Institute for Research in Environmental Health (NIREH), Bhopal, India.

Department of Pharmaceutical Sciences and Natural Products, Central University of Punjab, Bathinda, India.

出版信息

Int Rev Cell Mol Biol. 2025;391:95-134. doi: 10.1016/bs.ircmb.2024.10.003. Epub 2024 Oct 30.

Abstract

The increasing prevalence of breast cancer presents a significant global health challenge, highlighting the urgent need for improved diagnostic and treatment monitoring methods. The non-invasive nature of cell-free circulating epigenomic biomarkers, such as methylated DNA (metDNA) and microRNAs (miRNAs), offers a reassuring approach to identifying breast cancer patients in the early stages and assessing their response to therapy. This approach holds great promise for diagnosis and treatment evaluation, prioritizing patient comfort and well-being. Cell-free circulating metDNA and miRNAs are released into the bloodstream from dying tumor cells through apoptosis and necrosis, carrying tumor-specific genetic and epigenetic changes. These changes encompass alterations in DNA methylation patterns, are pivotal in regulating gene expression, and are frequently disrupted in cancer. The interplay between these processes and the dynamic release of epigenomic biomarkers provides a real-time snapshot of the genetic and epigenetic features of the tumor. Integrating the analysis of metDNA and miRNA biomarkers into clinical practice can facilitate the early detection of breast cancer and improve the precision of treatment monitoring. By tracking changes in these biological markers, healthcare professionals can make informed decisions regarding modifications to therapy, ultimately enhancing patient outcomes. Gaining insights into the underlying mechanisms of cell-free circulating epigenomic biomarkers offers a groundbreaking approach to diagnosing and treating breast cancer.

摘要

乳腺癌发病率的不断上升是一项重大的全球健康挑战,凸显了改进诊断和治疗监测方法的迫切需求。无细胞循环表观基因组生物标志物,如甲基化DNA(metDNA)和微小RNA(miRNA),具有非侵入性,为早期识别乳腺癌患者并评估其对治疗的反应提供了一种可靠的方法。这种方法在诊断和治疗评估方面具有巨大潜力,将患者的舒适度和福祉放在首位。无细胞循环metDNA和miRNA通过凋亡和坏死从垂死的肿瘤细胞释放到血液中,携带肿瘤特异性的遗传和表观遗传变化。这些变化包括DNA甲基化模式的改变,在调节基因表达中起关键作用,并且在癌症中经常被破坏。这些过程与表观基因组生物标志物的动态释放之间的相互作用提供了肿瘤遗传和表观遗传特征的实时快照。将metDNA和miRNA生物标志物的分析整合到临床实践中,可以促进乳腺癌的早期检测并提高治疗监测的精准度。通过跟踪这些生物标志物的变化,医疗保健专业人员可以就治疗方案的调整做出明智的决策,最终改善患者的治疗效果。深入了解无细胞循环表观基因组生物标志物的潜在机制为乳腺癌的诊断和治疗提供了一种开创性的方法。

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