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	Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations
	Chang, Jiang ; Tan, Wenle ; Ling, Zhiqiang ; Xi, Ruibin ; Shao, Mingming ; Chen, Mengjie ; Luo, Yingying ; Zhao, Yanjie ; Liu, Yun ; Huang, Xiancong ; Xia, Yuchao ; Hu, Jinlin ; Parker, Joel S. ; Marron, David ; Cui, Qionghua ; Peng, Linna ; Chu, Jiahui ; Li, Hongmin ; Du, Zhongli ; Han, Yaling ; Tan, Wen ; Liu, Zhihua ; Zhan, Qimin ; Li, Yun ; Mao, Weimin ; Wu, Chen ; Lin, Dongxin
	2017
关键词	HUMAN CANCERS LUNG-CANCER STRUCTURAL VARIATIONS SUSCEPTIBILITY LOCI WIDE ASSOCIATION TUMOR-SUPPRESSOR PROSTATE-CANCER POOR-PROGNOSIS LANDSCAPE DISCOVERY
英文摘要	Approximately half of the world's 500,000 new oesophageal squamous-cell carcinoma (ESCC) cases each year occur in China. Here, we show whole-genome sequencing of DNA and RNA in 94 Chinese individuals with ESCC. We identify six mutational signatures (E1-E6), and Signature E4 is unique in ESCC linked to alcohol intake and genetic variants in alcohol-metabolizing enzymes. We discover significantly recurrent mutations in 20 protein-coding genes, 4 long non-coding RNAs and 10 untranslational regions. Functional analyses show six genes that have recurrent copy-number variants in three squamous-cell carcinomas (oesophageal, head and neck and lung) significantly promote cancer cell proliferation, migration and invasion. The most frequently affected genes by structural variation are LRP1B and TTC28. The aberrant cell cycle and PI3K-AKT pathways seem critical in ESCC. These results establish a comprehensive genomic landscape of ESCC and provide potential targets for precision treatment and prevention of the cancer.; National High-Tech Research and Development Program of China [2014AA020601, 2015CB553901]; National Natural Science Foundation of China [81472614, 30721001]; Recruitment Program of Global Youth Experts; SCI(E); ARTICLE; 8
语种	英语
出处	SCI
出版者	NATURE COMMUNICATIONS
内容类型	其他
源URL	[http://hdl.handle.net/20.500.11897/473323]
专题	数学科学学院
推荐引用方式 GB/T 7714	Chang, Jiang,Tan, Wenle,Ling, Zhiqiang,et al. Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations. 2017-01-01.

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