At the crossroads of DNA damage repair and genomic instability, telomere research significantly expands our knowledge on fundamental mechanisms involved in cancer initiation and progression, pledging novel tools for targeted and universal onco-therapies. Molecular cytogenetics through the application of a battery of fluorescent hybridization technologies plays an important role toward understanding telomere homeostasis. Herein, we review distinct molecular cytogenetic phenotypes associated with telomere repair, functionality, and elongation. We discuss the underlying mechanisms responsible for their formation or repair, focusing on Break-induced-Replication (BIR)-mediated conservative telomeric neo-synthesis, recently shown to drive the enigmatic Alternative Lengthening of Telomeres in neoplasia.

中文翻译：

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显微镜下的染色体末端：端粒研究中的分子细胞遗传学。

在DNA损伤修复和基因组不稳定的十字路口，端粒研究极大地扩展了我们对涉及癌症发生和发展的基本机制的认识，并为靶向和普遍的肿瘤治疗提供了新的工具。通过应用一系列荧光杂交技术进行分子细胞遗传学研究对理解端粒稳态具有重要作用。在这里，我们审查与端粒修复，功能和伸长相关联的不同分子细胞遗传表型。我们讨论了负责其形成或修复的潜在机制，重点是断裂诱导的复制（BIR）介导的保守端粒新合成，最近显示出可推动肿瘤形成中端粒的神秘替代性加长。