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截短突变:对尿路癌生物学的深入洞察?

Truncating mutations: an insight into the biology of urinary tract carcinomas?

作者信息

Alhalabi Omar, Msaouel Pavlos

机构信息

Department of Genitourinary Medical Oncology, Division of Cancer Medicine, The University of Texas M.D. Anderson Cancer Center Houston, TX, USA.

David H. Koch Center for Applied Research of Genitourinary Cancers, The University of Texas, MD Anderson Cancer Center Houston, USA.

出版信息

Am J Cancer Res. 2021 Dec 15;11(12):6214-6217. eCollection 2021.

Abstract

A recent study by Arnoff and El-Deiry found that urothelial carcinomas of the bladder and upper tract as well as chromophobe renal cell carcinoma are more likely than other malignancies to harbor alterations in the gene, encoding for the cyclin-dependent kinase inhibitor p21, a major target of p53 regulatory pathways. Most of these mutations were truncating and thus presumably resulting in loss of p21 function. Herein, we discuss the prognostic and therapeutic implications of these findings.

摘要

阿诺夫和埃尔-戴里最近的一项研究发现,膀胱和上尿路尿路上皮癌以及肾嫌色细胞癌比其他恶性肿瘤更有可能在编码细胞周期蛋白依赖性激酶抑制剂p21(p53调节通路的主要靶点)的基因中发生改变。这些突变大多是截短突变,因此可能导致p21功能丧失。在此,我们讨论这些发现的预后和治疗意义。

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