OncoVar

The prevalence of neutral mutations in cancer cell population impedes the distinguishing of cancer-causing driver mutations from passenger mutations. To systematically prioritize the oncogenic ability of somatic mutations and cancer genes, we constructed a useful platform, OncoVar (https://oncovar.org/), which employed published bioinformatics algorithms and incorporated known driver events to identify driver mutations and driver genes. We identified 20 162 cancer driver mutations, 814 driver genes and 2360 pathogenic pathways with high-confidence by reanalyzing 10 769 exomes from 33 cancer types in The Cancer Genome Atlas (TCGA) and 1942 genomes from 18 cancer types in International Cancer Genome Consortium (ICGC). OncoVar provides four points of view, ‘Mutation’, ‘Gene’, ‘Pathway’ and ‘Cancer’, to help researchers to visualize the relationships between cancers and driver variants. Importantly, identification of actionable driver alterations provides promising druggable targets and repurposing opportunities of combinational therapies. OncoVar provides a user-friendly interface for browsing, searching and downloading somatic driver mutations, driver genes and pathogenic pathways in various cancer types. This platform will facilitate the identification of cancer drivers across individual cancer cohorts and helps to rank mutations or genes for better decision-making among clinical oncologists, cancer researchers and the broad scientific community interested in cancer precision medicine.癌细胞群体中中性突变的广泛存在，阻碍了致癌驱动突变（driver mutations）与乘客突变（passenger mutations）的区分。为系统性地对体细胞突变（somatic mutations）及癌基因的致癌能力进行优先级排序，我们构建了一款实用平台OncoVar（https://oncovar.org/），该平台采用已发表的生物信息学算法，并整合已知驱动事件以识别驱动突变与驱动基因。我们通过重新分析来自癌症基因组图谱（The Cancer Genome Atlas, TCGA）中33种癌症类型的10769个外显子组，以及国际癌症基因组联盟（International Cancer Genome Consortium, ICGC）中18种癌症类型的1942个基因组，最终鉴定得到20162个高置信度癌症驱动突变、814个驱动基因以及2360条致病通路。OncoVar提供“突变”“基因”“通路”与“癌症”四个分析视角，助力研究人员可视化癌症与驱动变异（driver variants）之间的关联。值得注意的是，可干预驱动改变的鉴定可为可药用靶点及组合疗法的药物重定位提供极具前景的方向。OncoVar配备用户友好的界面，支持浏览、检索与下载多种癌症类型中的体细胞驱动突变、驱动基因及致病通路。本平台将助力跨单个癌症队列的癌症驱动因子鉴定，并可为临床肿瘤学家、癌症研究者以及关注癌症精准医疗（cancer precision medicine）的广大科研群体提供突变或基因的优先级排序依据，辅助其做出更优决策。

搜集汇总

背景与挑战

背景概述

OncoVar是一个整合数据库和分析平台，旨在系统评估体细胞突变和癌症基因的致癌能力，通过整合生物信息学算法和已知驱动事件，识别驱动突变、驱动基因和致病通路。该平台基于TCGA和ICGC的癌症基因组数据，识别了20,162个驱动突变、814个驱动基因和2,360个致病通路，并提供'Mutation'、'Gene'、'Pathway'和'Cancer'四个视角以可视化癌症与驱动变异的关系。它支持用户浏览、搜索和下载数据，助力癌症精准医学的研究和临床决策。