1. Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma.
- Author
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Guo, Guangwu, Gui, Yaoting, Gao, Shengjie, Tang, Aifa, Hu, Xueda, Huang, Yi, Jia, Wenlong, Li, Zesong, He, Minghui, Sun, Liang, Song, Pengfei, Sun, Xiaojuan, Zhao, Xiaokun, Yang, Sangming, Liang, Chaozhao, Wan, Shengqing, Zhou, Fangjian, Chen, Chao, Zhu, Jialou, and Li, Xianxin
- Subjects
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NUCLEOTIDE sequence , *RENAL cell carcinoma , *GENETIC mutation , *UBIQUITIN , *PROTEOLYSIS , *CARCINOGENESIS , *HYPOXEMIA , *GENETICS - Abstract
We sequenced whole exomes of ten clear cell renal cell carcinomas (ccRCCs) and performed a screen of ?1,100 genes in 88 additional ccRCCs, from which we discovered 12 previously unidentified genes mutated at elevated frequencies in ccRCC. Notably, we detected frequent mutations in the ubiquitin-mediated proteolysis pathway (UMPP), and alterations in the UMPP were significantly associated with overexpression of HIF1? and HIF2? in the tumors (P = 0.01 and 0.04, respectively). Our findings highlight the potential contribution of UMPP to ccRCC tumorigenesis through the activation of the hypoxia regulatory network. [ABSTRACT FROM AUTHOR]
- Published
- 2012
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