Literature DB >> 22138691

Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma.

Guangwu Guo1, Yaoting Gui, Shengjie Gao, Aifa Tang, Xueda Hu, Yi Huang, Wenlong Jia, Zesong Li, Minghui He, Liang Sun, Pengfei Song, Xiaojuan Sun, Xiaokun Zhao, Sangming Yang, Chaozhao Liang, Shengqing Wan, Fangjian Zhou, Chao Chen, Jialou Zhu, Xianxin Li, Minghan Jian, Liang Zhou, Rui Ye, Peide Huang, Jing Chen, Tao Jiang, Xiao Liu, Yong Wang, Jing Zou, Zhimao Jiang, Renhua Wu, Song Wu, Fan Fan, Zhongfu Zhang, Lin Liu, Ruilin Yang, Xingwang Liu, Haibo Wu, Weihua Yin, Xia Zhao, Yuchen Liu, Huanhuan Peng, Binghua Jiang, Qingxin Feng, Cailing Li, Jun Xie, Jingxiao Lu, Karsten Kristiansen, Yingrui Li, Xiuqing Zhang, Songgang Li, Jian Wang, Huanming Yang, Zhiming Cai, Jun Wang.   

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 HIF1α and HIF2α 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.

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Year:  2011        PMID: 22138691     DOI: 10.1038/ng.1014

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  14 in total

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3.  Frequent mutation of BAP1 in metastasizing uveal melanomas.

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4.  The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho.

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5.  TP53, EGFR, and KRAS mutations in relation to VHL inactivation and lifestyle risk factors in renal-cell carcinoma from central and eastern Europe.

Authors:  K Szymańska; L E Moore; N Rothman; W H Chow; F Waldman; E Jaeger; T Waterboer; L Foretova; M Navratilova; V Janout; H Kollarova; D Zaridze; V Matveev; D Mates; N Szeszenia-Dabrowska; I Holcatova; V Bencko; F Le Calvez-Kelm; S Villar; M Pawlita; P Boffetta; P Hainaut; P Brennan
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Review 7.  Renal cell carcinoma.

Authors:  Brian I Rini; Steven C Campbell; Bernard Escudier
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8.  Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.

Authors:  Ignacio Varela; Patrick Tarpey; Keiran Raine; Dachuan Huang; Choon Kiat Ong; Philip Stephens; Helen Davies; David Jones; Meng-Lay Lin; Jon Teague; Graham Bignell; Adam Butler; Juok Cho; Gillian L Dalgliesh; Danushka Galappaththige; Chris Greenman; Claire Hardy; Mingming Jia; Calli Latimer; King Wai Lau; John Marshall; Stuart McLaren; Andrew Menzies; Laura Mudie; Lucy Stebbings; David A Largaespada; L F A Wessels; Stephane Richard; Richard J Kahnoski; John Anema; David A Tuveson; Pedro A Perez-Mancera; Ville Mustonen; Andrej Fischer; David J Adams; Alistair Rust; Waraporn Chan-on; Chutima Subimerb; Karl Dykema; Kyle Furge; Peter J Campbell; Bin Tean Teh; Michael R Stratton; P Andrew Futreal
Journal:  Nature       Date:  2011-01-19       Impact factor: 49.962

9.  Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

Authors:  Gillian L Dalgliesh; Kyle Furge; Chris Greenman; Lina Chen; Graham Bignell; Adam Butler; Helen Davies; Sarah Edkins; Claire Hardy; Calli Latimer; Jon Teague; Jenny Andrews; Syd Barthorpe; Dave Beare; Gemma Buck; Peter J Campbell; Simon Forbes; Mingming Jia; David Jones; Henry Knott; Chai Yin Kok; King Wai Lau; Catherine Leroy; Meng-Lay Lin; David J McBride; Mark Maddison; Simon Maguire; Kirsten McLay; Andrew Menzies; Tatiana Mironenko; Lee Mulderrig; Laura Mudie; Sarah O'Meara; Erin Pleasance; Arjunan Rajasingham; Rebecca Shepherd; Raffaella Smith; Lucy Stebbings; Philip Stephens; Gurpreet Tang; Patrick S Tarpey; Kelly Turrell; Karl J Dykema; Sok Kean Khoo; David Petillo; Bill Wondergem; John Anema; Richard J Kahnoski; Bin Tean Teh; Michael R Stratton; P Andrew Futreal
Journal:  Nature       Date:  2010-01-06       Impact factor: 49.962

10.  Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.

Authors:  Gijs van Haaften; Gillian L Dalgliesh; Helen Davies; Lina Chen; Graham Bignell; Chris Greenman; Sarah Edkins; Claire Hardy; Sarah O'Meara; Jon Teague; Adam Butler; Jonathan Hinton; Calli Latimer; Jenny Andrews; Syd Barthorpe; Dave Beare; Gemma Buck; Peter J Campbell; Jennifer Cole; Simon Forbes; Mingming Jia; David Jones; Chai Yin Kok; Catherine Leroy; Meng-Lay Lin; David J McBride; Mark Maddison; Simon Maquire; Kirsten McLay; Andrew Menzies; Tatiana Mironenko; Lee Mulderrig; Laura Mudie; Erin Pleasance; Rebecca Shepherd; Raffaella Smith; Lucy Stebbings; Philip Stephens; Gurpreet Tang; Patrick S Tarpey; Rachel Turner; Kelly Turrell; Jennifer Varian; Sofie West; Sara Widaa; Paul Wray; V Peter Collins; Koichi Ichimura; Simon Law; John Wong; Siu Tsan Yuen; Suet Yi Leung; Giovanni Tonon; Ronald A DePinho; Yu-Tzu Tai; Kenneth C Anderson; Richard J Kahnoski; Aaron Massie; Sok Kean Khoo; Bin Tean Teh; Michael R Stratton; P Andrew Futreal
Journal:  Nat Genet       Date:  2009-03-29       Impact factor: 38.330

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  158 in total

1.  Inactivation of the PBRM1 tumor suppressor gene amplifies the HIF-response in VHL-/- clear cell renal carcinoma.

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Review 2.  The roles of chromatin-remodelers and epigenetic modifiers in kidney cancer.

Authors:  Lili Liao; Joseph R Testa; Haifeng Yang
Journal:  Cancer Genet       Date:  2015-02-20

3.  Downregulated ECRG4 is associated with poor prognosis in renal cell cancer and is regulated by promoter DNA methylation.

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4.  Radiogenomics of clear cell renal cell carcinoma: associations between CT imaging features and mutations.

Authors:  Christoph A Karlo; Pier Luigi Di Paolo; Joshua Chaim; A Ari Hakimi; Irina Ostrovnaya; Paul Russo; Hedvig Hricak; Robert Motzer; James J Hsieh; Oguz Akin
Journal:  Radiology       Date:  2013-10-28       Impact factor: 11.105

5.  Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma.

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Journal:  Eur Urol       Date:  2012-09-27       Impact factor: 20.096

Review 6.  Collection, integration and analysis of cancer genomic profiles: from data to insight.

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Journal:  Curr Opin Genet Dev       Date:  2014-02-27       Impact factor: 5.578

7.  Reliable gene mutation prediction in clear cell renal cell carcinoma through multi-classifier multi-objective radiogenomics model.

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Review 8.  Precision medicine from the renal cancer genome.

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9.  Integrated Genomic and Proteomic Analyses Reveal Novel Mechanisms of the Methyltransferase SETD2 in Renal Cell Carcinoma Development.

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Review 10.  The Role of Additional Sex Combs-Like Proteins in Cancer.

Authors:  Jean-Baptiste Micol; Omar Abdel-Wahab
Journal:  Cold Spring Harb Perspect Med       Date:  2016-10-03       Impact factor: 6.915

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