中国循证心血管医学杂志2024,Vol.16Issue(2) :144-148.DOI:10.3969/j.issn.1674-4055.2024.02.04

国际癌症基因组联盟数据库的应用介绍

Application of database of International Cancer Genome Consortium

蒿花 王馨笛 耿辉 袁炜 陈新欢 王军 马茂
中国循证心血管医学杂志2024,Vol.16Issue(2) :144-148.DOI:10.3969/j.issn.1674-4055.2024.02.04

国际癌症基因组联盟数据库的应用介绍

Application of database of International Cancer Genome Consortium

蒿花 1王馨笛 2耿辉 1袁炜 3陈新欢 1王军 1马茂1
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作者信息

  • 1. 710061 西安,西安交通大学第一附属医院健康医学科
  • 2. 710061 西安,西安交通大学医学部
  • 3. 710061 西安,西安交通大学第一附属医院心内科
  • 折叠

摘要

随着21世纪分子生物学技术蓬勃发展,高通量测序技术识别了大量的癌症突变基因和分子标志物.面对庞大数量级基因的相互作用,各种非编码RNA及其复杂调控功能,使现代医学从分子角度揭示癌症潜在的作用方式和发生发展过程,难以准确阐述目标癌症的分子机制,因此急需结合高通量基因表达,表观组、蛋白质组、转录组信息数据,进行分子遗传学、分子药理学、病因病理学分析,获得潜在的癌症风险、分型等,识别致癌基因进行体细胞突变位点、碱基改变、功能影响等层面的数据,深度揭示癌症的发生发展、药物作用靶点、预后及治疗的癌症亚型等.国际癌症基因组联盟(ICGC)为解决上述问题,收集来自50种不同癌症类型或亚型的癌症建立方便研究者进行大规模癌症基因水平研究的数据库,该数据库在基因组、表观基因组和转录组水平对25 000余种癌症基因组进行系统研究,分析致癌的突变基因、诱变可能的影响,为癌症的预后和治疗管理确定临床相关亚型,促进新的癌症药物疗法开发.

Abstract

With the vigorous development of molecular biology technology in the 21st century,high-throughput sequencing technology has identified a large number of cancer mutation genes and molecular markers.Facing the interaction of huge orders of magnitude genes,various non-coding RNAs and their complex regulatory functions,modern medicine has revealed the potential mode of action and the development process of cancer from a molecular perspective.It is difficult to accurately explain the molecular mechanism of target cancer,so it is urgent to combine the information data of high throughput gene expression,epigenomics,proteomics,transcriptomics,to conduct molecular genetics,molecular pharmacology and etiology and pathology analyses for obtaining potential cancer risk,typing,etc,to identify oncogenes for somatic mutation sites,base changes,functional influence and other levels of data,and to deeply reveal the occurrence and development of cancer,drug targets,prognosis and cancer subtypes for treatment,etc.In order to solve the above problems,the International Cancer Genome Consortium(ICGC)collects cancers from 50 different cancer types or subtypes to establish a database that facilitates researchers to conduct large-scale cancer gene level research.The systematic research is conducted on more than 25,000 cancer genomes at the levels of genomics,epigenomics and transcriptomics for analyzing possible effects of oncogenic mutant genes and mutagenesis.The purpose is to determine clinically relevant subtypes for cancer prognosis and treatment management,and promote development of new cancer drug therapies.

关键词

癌症/国际癌症基因组联盟/基因突变/临床相关亚型

Key words

Cancer/International Cancer Genome Consortium/Gene mutations/Clinical relevant subtypes

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基金项目

西安交通大学第一附属医院院项目(2020RKX-16)

西安交通大学第一附属医院院项目(2021ZYTS-39)

出版年

2024
中国循证心血管医学杂志
中国人民解放军北京军区总医院

中国循证心血管医学杂志

CSTPCD
影响因子:1.272
ISSN:1674-4055
参考文献量16
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