Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Sydney, Australia
Translational Genomics and Epigenomics Laboratory, Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, Australia.
J Clin Pathol. 2019 Apr;72(4):281-284. doi: 10.1136/jclinpath-2018-205653. Epub 2019 Jan 29.
In this review, we summarise the function and structure of telomerase reverse transcriptase () in humans, including its regulation. The dysregulation of telomerase through promoter mutations across a range of cancers is discussed. The molecular mechanism activated by promoter mutations is outlined. Finally, the timing of promoter mutations during carcinogenesis is reviewed in the context of their potential utility as clinical biomarkers of malignant transformation.
在这篇综述中,我们总结了端粒酶逆转录酶()在人类中的功能和结构,包括其调控。讨论了端粒酶通过一系列癌症中的启动子突变的失调。概述了 启动子突变激活的分子机制。最后,根据 启动子突变在癌变过程中的时间,回顾了它们作为恶性转化临床生物标志物的潜在用途。