食管鳞状细胞癌(简称食管癌)死亡率位居我国恶性肿瘤的第4位,全球一半以上食管癌病例发生在我国,对人民的生命健康构成了严重威胁。然而,目前国际上相关组学研究大部分仍主要针对非中国人群,且原始数据的分析存在壁垒,截止目前,国际上仍没有一个全面系统展现、查询的中国人群食管癌关联研究资源。
因此,本课题组与中国医学科学院肿瘤医院合作,整合分析了多种中国人群食管癌遗传关联资料,包括(1)2022个食管癌病例和2039个正常对照的食管癌易感性全基因组关联研究;(2)1006个食管癌患者生存的全基因组关联研究;(3)94个食管癌患者的肿瘤组织和配对癌旁正常组织的遗传变异与基因表达的关联研究;(4)675个食管癌患者的体细胞变异与生存的关联研究,建立了首个食管癌关联基因数据库CCGD-ESCC,最大程度上免费共享数据资源,助力食管癌遗传学和基因组学研究。
A.网站首页 B. 数据资源介绍界面(示例) C. 检索结果界面(示例)
作为中国肿瘤组学数据库(Chinese Cancer Genomic Database, CCGD)的前期工作,本数据库免费在线对全世界公开,相关论文“CCGD-ESCC: A Comprehensive Database for Genetic Variants Associated with Esophageal Squamous Cell Carcinoma in Chinese Population”已于2018年9月22日Genomics, Proteomics & Bioinformatics (GPB)在线发表。
网站链接:http://ESCCdb.gao-lab.org
原文链接:https://doi.org/10.1016/j.gpb.2018.03.005
参考文献:
Wu C, et al. (2011). Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. Nat Genet. 43(7):679-84. PMID: 21642993.
Wu C, et al. (2012). Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. Nat Genet. 44(10):1090-7. PMID: 22960999.
Wu C, et al. (2013). Genome-wide association study identifies common variants in SLC39A6 associated with length of survival in esophageal squamous-cell carcinoma. Nat Genet. 45(6):632-8. PMID: 23644492.
Wu C, et al. (2014). Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. Nat Genet. 46(9):1001-6. PMID: 25129146.
Chang J, et al. (2017). Genomic analysis of esophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations. Nat Commun. 8, 15290. PMID: 28548104.
Cancer Genome Atlas Research. (2017). Integrated genomic characterization of oesophageal carcinoma. Nature. 541(7636):169-175. PMID: 28052061.
Qin HD, et al. (2016). Genomic characterization of esophageal squamous cell carcinoma reveals critical genes underlying tumorigenesis and poor prognosis. Am J Hum Genet. 98(4):709-27. PMID: 27058444.
Sawada G, et al. (2016). Genomic landscape of esophageal squamous cell carcinoma in a Japanese population. Gastroenterology. 150(5):1171-82. PMID: 26873401.
Zhang L, et al. (2015). Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma. Am J Hum Genet. 96(4):597-611. PMID: 25839328.
Gao YB, et al. (2014). Genetic landscape of esophageal squamous cell carcinoma. Nat Genet. 46(10):1097-102. PMID: 25151357.
Song Y, et al. (2014). Identification of genomic alterations in oesophageal squamous cell cancer. Nature. 509(7498):91-5. PMID: 24670651.