遗传性癌症中剪接基因变异的重新分类：病例报告和文献复习。
Reclassification of Splicing Gene Variants in Hereditary Cancer: Cases Report and Literature Review.
机构信息
Genekor Medical S.A, Athens, Greece.
Genekor Medical S.A, Athens, Greece
出版信息
In Vivo. 2023 Jul-Aug;37(4):1432-1444. doi: 10.21873/invivo.13227.
Abstract
Alternative splicing (AS), a crucial cellular process, is a source of transcriptomic expansion and protein variability. Its contribution to cancer development and progression among a vast repertoire of human diseases, is highlighted lately and is under extensive investigation. In this review, the relative recent aspects of AS as a hallmark of cancer are described. In parallel, the importance of the identification of splicing-related variants through next-generation sequencing technologies is discussed. Cancer therapy and the management of patients and their families can highly benefit by the classification of these variants.
摘要
选择性剪接（AS）是一种重要的细胞过程，是转录组扩展和蛋白质变异性的来源。最近，它在人类疾病的广泛疾病谱中对癌症的发生和发展的贡献受到了广泛的关注和研究。在这篇综述中，描述了 AS 作为癌症标志的相对较新的方面。同时，讨论了通过下一代测序技术鉴定剪接相关变体的重要性。通过对这些变体进行分类，癌症治疗以及患者及其家属的管理都将受益匪浅。
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