Hopkins Team Identifies Frequent Mutations in Cholangiocarciomas
The novel technology of exome sequencing allows scientists to screen cancers for essentially all mutations in a compressive fashion. Using the technology, the Hopkins team has identified frequent in activating mutations in multiple chromatin remodeling genes (including BAP1, ARID1A, and PBRM1), along with mutations in the IDH1/IDH2 genes in cholangiocarcinomas (bile duct carcinomas which originate in the liver). We identified p53 mutations as the most frequent alteration in gallbladder carcinomas. These studies provide the scientific basis for developing targeted therapy for biliary tract cancers.
Jiao Y et al. Nature Genetics 2013; 45:1470-1473.
~ June 2016
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