Cancer Driver Log (CanDL) Catalog of Potentially Actionable Cancer Mutations
Cancer Driver Log (CanDL) Catalog of Potentially Actionable Cancer Mutations
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DOI：
10.1016/j.jmoldx.2015.05.002
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发表时间：
2015-09-01
影响因子：
4.1
通讯作者：
Roychowdhury, Sameek
中科院分区：
文献类型：
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作者：
Damodaran, Senthilkumar;Miya, Jharna;Roychowdhury, Sameek
大规模并行测序技术已经能够表征多种肿瘤类型的基因组变化。努力的重点是识别驱动程序突变，因为它们代表了潜在的治疗目标。然而，由于驾驶员和乘客突变的存在，在患者中观察到的特定突变的临床相关性往往是具有挑战性的。目前，有多个数据库和工具可以为潜在的驱动因素提供计算机评估；然而，还没有全面的资源来分析突变的功能特征。因此，我们为分子病理学家创建了一个由专家管理的潜在可操作驱动程序突变数据库，以便于对癌症基因组测试进行注释。我们回顾了科学文献，以确定在体外或体内作为驱动突变的功能特征的变体。我们获得了每个氨基酸变化的染色体位置和所有可能的核苷酸位置，并将它们上传到癌症驱动程序日志(CATL)数据库，并提供了相关文献参考，表明了功能驱动程序的证据。除了一个简单的界面，该数据库还允许用户下载所有或选定的基因作为逗号分隔值文件，以便合并到他们自己的分析管道中。此外，该数据库还包括第三方贡献的机制，以支持对新的驱动程序突变的更新。总体而言，这个免费可用的数据库将有助于分子病理学实验室对癌症基因组突变测试的快速注释。
Massively parallel sequencing technologies have enabled characterization of genomic alterations across multiple tumor types. Efforts have focused on identifying driver mutations because they represent potential targets for therapy. However, because of the presence of driver and passenger mutations, it is often challenging to assign the clinical relevance of specific mutations observed in patients. Currently, there are multiple databases and tools that provide in silico assessment for potential drivers; however, there is no comprehensive resource for mutations with functional characterization. Therefore, we created an expert-curated database of potentially actionable driver mutations for molecular pathologists to facilitate annotation of cancer genomic testing. We reviewed scientific literature to identify variants that have been functionally characterized in vitro or in vivo as driver mutations. We obtained the chromosome Location and all possible nucleotide positions for each amino acid change and uploaded them to the Cancer Driver Log (CanDL) database with associated Literature reference indicating functional driver evidence. In addition to a simple interface, the database allows users to download all or selected genes as a comma-separated values file for incorporation into their own analysis pipeline. Furthermore, the database includes a mechanism for third-party contributions to support updates for novel driver mutations. Overall, this freely available database will facilitate rapid annotation of cancer genomic testing in molecular pathology laboratories for mutations.