Telomere instability is one of the main sources of genome instability and may result from chromosome end loss (due to chromosome breakage at one or both ends) or, more frequently, telomere dysfunction. Dysfunctional telomeres arise when they lose their end-capping function or become critically short, which causes chromosomal termini to behave like a DNA double-strand break. Telomere instability may occur at the chromosomal or at the molecular level, giving rise, respectively, to telomere-related chromosomal aberrations or the loss or modification of any of the components of the telomere (telomere DNA, telomere-associated proteins, or telomere RNA). Since telomeres play a fundamental role in maintaining genome stability, the study of telomere instability in cells exposed to mutagens is of great importance to understand the telomere-driven genomic instability present in those cells. In the present review, we will focus on the current knowledge about telomere instability induced by physical, chemical, and biological mutagens in human cells.

端粒不稳定性是基因组不稳定性的主要来源之一，可能是由于染色体末端丢失（由于染色体一端或两端断裂）或更常见的端粒功能障碍所致。当端粒失去其封端功能或变得非常短时，就会出现功能失调的端粒，这会导致染色体末端表现得像 DNA 双链断裂。端粒不稳定可能发生在染色体或分子水平，分别导致与端粒相关的染色体畸变或端粒任何成分（端粒 DNA、端粒相关蛋白或端粒 RNA）的丢失或修饰. 由于端粒在维持基因组稳定性方面发挥着重要作用，研究暴露于诱变剂的细胞中的端粒不稳定性对于了解这些细胞中存在的端粒驱动的基因组不稳定性非常重要。在本综述中，我们将重点关注由物理、化学和生物诱变剂在人体细胞中引起的端粒不稳定性的当前知识。