Cancer Driver Log (CanDL) Catalog of Potentially Actionable Cancer Mutations

被引:44
|
作者
Damodaran, Senthilkumar [1 ]
Miya, Jharna [2 ]
Kautto, Esko [2 ]
Zhu, Eliot [2 ]
Samorodnitsky, Eric [2 ]
Datta, Jharna [2 ]
Reeser, Julie W. [2 ]
Roychowdhury, Sameek [1 ,2 ,3 ]
机构
[1] Ohio State Univ, Div Med Oncol, Columbus, OH 43210 USA
[2] Ohio State Univ, Ctr Comprehens Canc, Dept Internal Med, Columbus, OH 43210 USA
[3] Ohio State Univ, Dept Pharmacol, Columbus, OH 43210 USA
来源
JOURNAL OF MOLECULAR DIAGNOSTICS | 2015年 / 17卷 / 05期
关键词
VALIDATION; GENES; ONCOLOGY; DATABASE;
D O I
10.1016/j.jmoldx.2015.05.002
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
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.
引用
收藏
页码:554 / 559
页数:6
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