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学科主题临床医学
Genetic landscape of esophageal squamous cell carcinoma
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
2014-10-01
DOI10.1038/ng.3076
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
WOS记录号WOS:000342554100012
引用统计
被引频次:165[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/58300
专题北京大学临床肿瘤学院_胸外科
北京大学临床肿瘤学院_胸部肿瘤外二科
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
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GB/T 7714
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.
APA Gao, Yi-Bo.,Chen, Zhao-Li.,Li, Jia-Gen.,Hu, Xue-Da.,Shi, Xue-Jiao.,...&He, Jie.(2014).Genetic landscape of esophageal squamous cell carcinoma.NATURE GENETICS,46(10),1097-1102.
MLA Gao, Yi-Bo,et al."Genetic landscape of esophageal squamous cell carcinoma".NATURE GENETICS 46.10(2014):1097-1102.
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