OncoKB: A Precision Oncology Knowledge Base.
OncoKB: A Precision Oncology Knowledge Base.
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DOI：
10.1200/po.17.00011
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发表时间：
2017-07
影响因子：
4.6
通讯作者：
Schultz N
中科院分区：
文献类型：
--
作者：
Chakravarty D;Gao J;Phillips SM;Kundra R;Zhang H;Wang J;Rudolph JE;Yaeger R;Soumerai T;Nissan MH;Chang MT;Chandarlapaty S;Traina TA;Paik PK;Ho AL;Hantash FM;Grupe A;Baxi SS;Callahan MK;Snyder A;Chi P;Danila D;Gounder M;Harding JJ;Hellmann MD;Iyer G;Janjigian Y;Kaley T;Levine DA;Lowery M;Omuro A;Postow MA;Rathkopf D;Shoushtari AN;Shukla N;Voss M;Paraiso E;Zehir A;Berger MF;Taylor BS;Saltz LB;Riely GJ;Ladanyi M;Hyman DM;Baselga J;Sabbatini P;Solit DB;Schultz N
随着肿瘤的前瞻性临床测序成为癌症治疗的支柱，迫切需要一种临床支持工具，将与特定突变事件相关的临床意义提炼成标准化且易于解释的格式。为此，我们开发了OncoKB，这是一个专家指导的精确肿瘤学知识库。OncoKB注释了生物学和致癌作用以及体细胞分子改变的预后和预测意义。根据美国食品和药物管理局（FDA）标签、国家综合癌症网络（NCCN）指南、以疾病为重点的专家组建议和科学文献，根据特定分子改变可预测药物反应的证据水平，对潜在的治疗影响进行分层。迄今为止，418种癌症相关基因中超过3000种独特的突变、融合和拷贝数改变已被注释。为了测试OncoKB的实用性，我们对19种癌症类型的5983例原发肿瘤样本中的所有基因组事件进行了注释。41%的样本至少有一种潜在的可采取行动的改变，其中7.5%预测了标准治疗的临床益处。OncoKB注释可通过公共网络资源（http://oncokb.org/）获得，也被纳入癌症基因组学的cbiopportal，以促进医生和研究人员对基因组变化的解释。OncoKB是一个综合性的精确肿瘤学知识库，为肿瘤学家提供了关于患者肿瘤中个体体细胞突变和结构改变的详细、基于证据的信息，旨在支持最佳治疗决策。
With prospective clinical sequencing of tumors emerging as a mainstay in cancer care, there is an urgent need for a clinical support tool that distills the clinical implications associated with specific mutation events into a standardized and easily interpretable format. To this end, we developed OncoKB, an expert-guided precision oncology knowledge base. OncoKB annotates the biological and oncogenic effect and the prognostic and predictive significance of somatic molecular alterations. Potential treatment implications are stratified by the level of evidence that a specific molecular alteration is predictive of drug response based on US Food and Drug Administration (FDA) labeling, National Comprehensive Cancer Network (NCCN) guidelines, disease-focused expert group recommendations and the scientific literature. To date, over 3000 unique mutations, fusions, and copy number alterations in 418 cancer-associated genes have been annotated. To test the utility of OncoKB, we annotated all genomic events in 5983 primary tumor samples in 19 cancer types. Forty-one percent of samples harbored at least one potentially actionable alteration, of which 7.5% were predictive of clinical benefit from a standard treatment. OncoKB annotations are available through a public web resource (http://oncokb.org/) and are also incorporated into the cBioPortal for Cancer Genomics to facilitate the interpretation of genomic alterations by physicians and researchers. OncoKB, a comprehensive and curated precision oncology knowledge base, offers oncologists detailed, evidence-based information about individual somatic mutations and structural alterations present in patient tumors with the goal of supporting optimal treatment decisions.