机构:[1]Laboratory of Molecular Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital& Institute, 100142 Beijing, China[2]Institute of Digestive Disease and Department of Medicine and Therapeutics, State Key Laboratory of Digestive Disease,Li Ka Shing Institute of Health Sciences, CUHK Shenzhen Research Institute, Shenzhen 518000, China深圳市康宁医院深圳医学信息中心[3]Department of Surgery, Rui-jin Hospital, ShanghaiJiaotong University School of Medicine, Shanghai 200025, China[4]State Key Laboratory of Cancer Biology, Xijing Hospital of Digestive Diseases, FourthMilitary Medical University, Shanxi 710032, China[5]Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory for EndocrineTumours, Rui-Jin Hospital, Shanghai Jiao-Tong University School of Medicine, 200025 Shanghai, China[6]The Second Affiliated Hospital of GuangzhouUniversity of Chinese Medicine, 510120 Guangzhou, China[7]College of Life Science and Technology, Huazhong Agricultural University, 430070 Wuhan,China[8]Department of Medical Oncology, Beijing Hospital, 100730 Beijing, China
Genome-wide analysis of genomic signatures might reveal novel mechanisms for gastric cancer (GC) tumorigenesis. Here, we analysis structural variations (SVs) and mutational signatures via whole-genome sequencing of 168 GCs. Our data demonstrates diverse models of complex SVs operative in GC, which lead to high-level amplification of oncogenes. We find varying proportion of tandem-duplications (TDs) among individuals and identify 24 TD hotspots involving well-established cancer genes such as CCND1, ERBB2 and MYC. Specifically, we nominate a novel hotspot involving the super-enhancer of ZFP36L2 presents in approximately 10% GCs from different cohorts, the oncogenic role of which is further confirmed by experimental data. In addition, our data reveal a mutational signature, specifically occurring in noncoding region, significantly enriched in tumors with cadherin 1 mutations, and associated with poor prognoses. Collectively, our data suggest that TDs might serve as an important mechanism for cancer gene activation and provide a novel signature for stratification.
基金:
National Key Research and Development Program of China [2017YFC1308900]; National Bio-Tech 863 Program [2012AA02A203]; National Key R&D Program of China [2017YFC0908300, 2016YFC1303200]; Beijing Nova ProgramBeijing Municipal Science & Technology Commission [Z151100000315069]; Beijing Talent Fund; National Science Foundation of ChinaNational Natural Science Foundation of China [81772502]; Beijing Municipal Commission of Health and Family Planning Project [PXM2018_026279_000005]; Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding Support [ZYLX201701]; Guangzhou Health-Medical Collaborative Innovation Project [201508020247]
第一作者机构:[1]Laboratory of Molecular Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital& Institute, 100142 Beijing, China
共同第一作者:
通讯作者:
通讯机构:[1]Laboratory of Molecular Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital& Institute, 100142 Beijing, China[8]Department of Medical Oncology, Beijing Hospital, 100730 Beijing, China
推荐引用方式(GB/T 7714):
Rui Xing,Yong Zhou,Jun Yu,et al.Whole-genome sequencing reveals novel tandem-duplication hotspots and a prognostic mutational signature in gastric cancer[J].NATURE COMMUNICATIONS.2019,10:doi:10.1038/s41467-019-09644-6.
APA:
Rui Xing,Yong Zhou,Jun Yu,Yingyan Yu,Yongzhan Nie...&Youyong Lu.(2019).Whole-genome sequencing reveals novel tandem-duplication hotspots and a prognostic mutational signature in gastric cancer.NATURE COMMUNICATIONS,10,
MLA:
Rui Xing,et al."Whole-genome sequencing reveals novel tandem-duplication hotspots and a prognostic mutational signature in gastric cancer".NATURE COMMUNICATIONS 10.(2019)