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学科主题: 临床医学
题名:
Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation
作者: Guo, Guangwu1,2; Sun, Xiaojuan1,3,4,5; Chen, Chao2; Wu, Song1,3,4,5,6,7; Huang, Peide2; Li, Zesong1,3,4,5; Dean, Michael8; Huang, Yi1,3,4,5; Jia, Wenlong2; Zhou, Quan2; Tang, Aifa1,3,4,5; Yang, Zuoquan2; Li, Xianxin9; Song, Pengfei2; Zhao, Xiaokun10; Ye, Rui2; Zhang, Shiqiang1,3,4,5; Lin, Zhao2; Qi, Mingfu1,3,4,5; Wan, Shengqing2; Xie, Liangfu1,3,4,5; Fan, Fan2; Nickerson, Michael L.8; Zou, Xiangjun1,3,4,5; Hu, Xueda2; Xing, Li1,3,4,5; Lv, Zhaojie1,3,4,5; Mei, Hongbin1,3,4,5; Gao, Shengjie2; Liang, Chaozhao11; Gao, Zhibo2; Lu, Jingxiao9; Yu, Yuan2; Liu, Chunxiao12; Li, Lin2; Fang, Xiaodong2; Jiang, Zhimao9; Yang, Jie2; Li, Cailing9; Zhao, Xin2; Chen, Jing9; Zhang, Fang2; Lai, Yongqi9; Lin, Zheguang9; Zhou, Fangjian7; Chen, Hao1,3,4,5; Chan, Hsiao Chang13; Tsang, Shirley14; Theodorescu, Dan15; Li, Yingrui2; Zhang, Xiuqing2; Wang, Jian2; Yang, Huanming2; Gui, Yaoting9; Wang, Jun2,16,17; Cai, Zhiming1,3,4,5
刊名: NATURE GENETICS
发表日期: 2013-12-01
DOI: 10.1038/ng.2798
卷: 45, 期:12, 页:1459-U213
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: ACUTE MYELOID-LEUKEMIA ; SHORT READ ALIGNMENT ; COLORECTAL CANCERS ; CELL-CARCINOMA ; RNA-SEQ ; MUTATIONS ; FGFR3 ; ANEUPLOIDY ; FUSIONS ; VARIANT
英文摘要:

Bladder cancer is one of the most common cancers worldwide, with transitional cell carcinoma (TCC) being the predominant form. Here we report a genomic analysis of TCC by both whole-genome and whole-exome sequencing of 99 individuals with TCC. Beyond confirming recurrent mutations in genes previously identified as being mutated in TCC, we identified additional altered genes and pathways that were implicated in TCC. Notably, we discovered frequent alterations in STAG2 and ESPL1, two genes involved in the sister chromatid cohesion and segregation (SCCS) process. Furthermore, we also detected a recurrent fusion involving FGFR3 and TACC3, another component of SCCS, by transcriptome sequencing of 42 DNA-sequenced tumors. Overall, 32 of the 99 tumors (32%) harbored genetic alterations in the SCCS process. Our analysis provides evidence that genetic alterations affecting the SCCS process may be involved in bladder tumorigenesis and identifies a new therapeutic possibility for bladder cancer.

语种: 英语
所属项目编号: 2012AA02A201 ; 2012AA02A208 ; 2009010016 ; 2011CB809203 ; 2014CB745200 ; JC201005260191A ; CXB201108250096A ; ZDSY20120615154448514 ; BGI20100001
项目资助者: Chinese High-Tech (863) Program ; Guangdong Innovative Research Team Program ; State Key Development Program for Basic Research of China-973 Program ; Shenzhen Municipal Government of China
WOS记录号: WOS:000327715800011
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55818
Appears in Collections:北京大学深圳医院_期刊论文

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作者单位: 1.Univ Copenhagen, Dept Biol, Copenhagen, Denmark
2.BGI Shenzhen, Shenzhen, Peoples R China
3.BioMatrix, Rockville, MD USA
4.Shenzhen Univ, Affiliated Hosp 1, Shenzhen Peoples Hosp 2, Dept Urol Surg, Shenzhen, Peoples R China
5.Shenzhen Univ, Affiliated Hosp 1, Shenzhen Peoples Hosp 2, Natl Reg Key Technol Engn Lab Clin Applicat Canc, Shenzhen, Peoples R China
6.Shenzhen Univ, Affiliated Hosp 1, Shenzhen Peoples Hosp 2, Shenzhen Engn Lab Tumor Clin Immune Gene Therapy, Shenzhen, Peoples R China
7.Shenzhen Univ, Affiliated Hosp 1, Shenzhen Peoples Hosp 2, Shenzhen Key Lab Genitourinary Tumor, Shenzhen, Peoples R China
8.Sun Yat Sen Univ, Zhongshan Sch Med, Inst Immunol, Guangzhou 510275, Guangdong, Peoples R China
9.Sun Yat Sen Univ, Ctr Canc, Dept Urol, Guangzhou 510275, Guangdong, Peoples R China
10.NCI, Canc & Inflammat Program, US Natl Inst Hlth NIH, Frederick, MD 21701 USA
11.Peking Univ Shenzhen Hosp, Shenzhen PKU HKUST Med Ctr, Inst Urol, Guangdong & Shenzhen Key Lab Male Reprod Med & Ge, Shenzhen, Peoples R China
12.Cent Southern Univ, Xiangya Hosp 2, Dept Urol, Changsha, Hunan, Peoples R China
13.Anhui Med Univ, Affiliated Hosp 1, Dept Urol, Hefei, Peoples R China
14.Southern Med Univ, Zhujiang Hosp, Dept Urol, Guangzhou, Guangdong, Peoples R China
15.Chinese Univ Hong Kong, Fac Med, Sch Biomed Sci, Epithelial Cell Biol Res Ctr, Shatin, Hong Kong, Peoples R China
16.Univ Colorado, Ctr Comprehens Canc, Dept Surg, Aurora, CO USA
17.Univ Copenhagen, Novo Nordisk Fdn, Ctr Basic Metab Res, Copenhagen, Denmark

Recommended Citation:
Guo, Guangwu,Sun, Xiaojuan,Chen, Chao,et al. Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation[J]. NATURE GENETICS,2013,45(12):1459-U213.
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