北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学临床肿瘤学院  > 胸外科  > 期刊论文
学科主题: 临床医学
题名:
Genetic landscape of esophageal squamous cell carcinoma
作者: Gao, Yi-Bo1; Chen, Zhao-Li1; Li, Jia-Gen1; Hu, Xue-Da1; Shi, Xue-Jiao1; Sun, Zeng-Miao1; Zhang, Fan1; Zhao, Zi-Ran2,3; Li, Zi-Tong2,3; Liu, Zi-Yuan1; Zhao, Yu-Da1; Sun, Jian1; Zhou, Cheng-Cheng1; Yao, Ran1; Wang, Su-Ya1; Wang, Pan2,3; Sun, Nan1; Zhang, Bai-Hua1; Dong, Jing-Si1; Yu, Yue1; Luo, Mei1; Feng, Xiao-Li4; Shi, Su-Sheng4; Zhoul, Fang1; Tan, Feng-Wei1; Qiu, Bin1; Li, Ning1; Shao, Kang1; Zhang, Li-Jian5; Zhang, Lan-Jun6; Xue, Qi1; Gao, Shu-Geng1; He, Jie1
刊名: NATURE GENETICS
发表日期: 2014-10-01
DOI: 10.1038/ng.3076
卷: 46, 期:10, 页:1097-1102
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]: GENOME-WIDE ASSOCIATION ; RECURRENT SOMATIC MUTATIONS ; CHROMATIN REMODELING GENES ; LUNG-CANCER ; SUSCEPTIBILITY LOCI ; HISTONE ACETYLTRANSFERASES ; GASTRIC ADENOCARCINOMA ; FREQUENT MUTATION ; TUMOR-SUPPRESSOR ; LIM PROTEIN
英文摘要:

Esophageal squamous cell carcinoma (ESCC) is one of the deadliest cancers′. We performed exome sequencing on 113 tumor-normal pairs, yielding a mean of 82 non-silent mutations per tumor, and 8 cell lines. The mutational profile of ESCC closely resembles those of squamous cell carcinomas of other tissues but differs from that of esophageal adenocarcinoma. Genes involved in cell cycle and apoptosis regulation were mutated in 99% of cases by somatic alterations of TP53 (93%), CCND1 (33%), CDKN2A (20%), NFE2L2 (10%) and RB1 (9%). Histone modifier genes were frequently mutated, including KMT2D (also called MLL2; 19%), KMT2C (MLL3; 6%), KDM6A (7%), EP300 (10%) and CREBBP (6%). EP300 mutations were associated with poor survival. The Hippo and Notch pathways were dysregulated by mutations in FAT1, FAT2, FAT3 or FAT4 (27%) or AJUBA (1UB; 7%) and NOTCH1, NOTCH2 or NOTCH3 (22%) or FBXW7 (5%), respectively. These results define the mutational landscape of ESCC and highlight mutations in epigenetic modulators with prognostic and potentially therapeutic implications.

语种: 英语
所属项目编号: 2012AA02A503 ; 81172336 ; 81372219 ; 81301851 ; U1302223 ; IRT13006 ; 7141011
项目资助者: National High-Tech Research and Development Program of China ; National Natural Science Foundation of China ; Program for Changjiang Scholars and Innovative Research Team in University of China ; Beijing Municipal Natural Science Foundation
WOS记录号: WOS:000342554100012
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/58300
Appears in Collections:北京大学临床肿瘤学院_胸外科_期刊论文

Files in This Item:

There are no files associated with this item.


作者单位: 1.Chinese Acad Med Sci, Canc Inst & Hosp, Dept Thorac Surg, Beijing 100730, Peoples R China
2.Peking Union Med Coll, Dept Clin Med, Beijing 100021, Peoples R China
3.Chinese Acad Med Sci, Beijing 100730, Peoples R China
4.Chinese Acad Med Sci, Canc Inst & Hosp, Dept Pathol, Beijing 100730, Peoples R China
5.Peking Univ, Canc Hosp, Dept Thorac Surg, Beijing 100871, Peoples R China
6.Sun Yat Sen Univ, Ctr Canc, Dept Thorac Surg, Guangzhou 510275, Guangdong, Peoples R China

Recommended Citation:
Gao, Yi-Bo,Chen, Zhao-Li,Li, Jia-Gen,et al. Genetic landscape of esophageal squamous cell carcinoma[J]. NATURE GENETICS,2014,46(10):1097-1102.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Gao, Yi-Bo]'s Articles
[Chen, Zhao-Li]'s Articles
[Li, Jia-Gen]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Gao, Yi-Bo]‘s Articles
[Chen, Zhao-Li]‘s Articles
[Li, Jia-Gen]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace