Geneton s.r.o., 84104 Bratislava, Slovakia.
Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University, 81108 Bratislava, Slovakia.
Genes (Basel). 2023 Mar 14;14(3):715. doi: 10.3390/genes14030715.
Telomere dynamics play a crucial role in the maintenance of chromosome integrity; changes in telomere length may thus contribute to the development of various diseases including cancer. Understanding the role of telomeric DNA in carcinogenesis and detecting the presence of cell-free telomeric DNA (cf-telDNA) in body fluids offer a potential biomarker for novel cancer screening and diagnostic strategies. Liquid biopsy is becoming increasingly popular due to its undeniable benefits over conventional invasive methods. However, the organization and function of cf-telDNA in the extracellular milieu are understudied. This paper provides a review based on 3,398,017 cancer patients, patients with other conditions, and control individuals with the aim to shed more light on the inconsistent nature of telomere lengthening/shortening in oncological contexts. To gain a better understanding of biological factors (e.g., telomerase activation, alternative lengthening of telomeres) affecting telomere homeostasis across different types of cancer, we summarize mechanisms responsible for telomere length maintenance. In conclusion, we compare tissue- and liquid biopsy-based approaches in cancer assessment and provide a brief outlook on the methodology used for telomere length evaluation, highlighting the advances of state-of-the-art approaches in the field.
端粒动力学在维持染色体完整性方面起着至关重要的作用;因此,端粒长度的变化可能导致包括癌症在内的各种疾病的发展。了解端粒 DNA 在致癌作用中的作用,并检测体液中游离端粒 DNA(cf-telDNA)的存在,为新型癌症筛查和诊断策略提供了潜在的生物标志物。液体活检因其相对于传统侵入性方法的不可否认的优势而越来越受欢迎。然而,cf-telDNA 在细胞外环境中的组织和功能仍研究不足。本文基于 3398017 名癌症患者、其他疾病患者和对照个体进行了综述,旨在更深入地了解在肿瘤学背景下端粒延长/缩短的不一致性质。为了更好地了解影响不同类型癌症中端粒动态平衡的生物学因素(例如端粒酶激活、端粒的替代性延长),我们总结了负责端粒长度维持的机制。总之,我们比较了基于组织和液体活检的癌症评估方法,并简要展望了端粒长度评估中使用的方法,突出了该领域最先进方法的进展。