Exome sequencing of 32 intrahepatic cholangiocarcinomas has revealed recurrent inactivating mutations in several genes involved in chromatin remodelling—such as in BAP1, ARID1 and PBRM1—that were previously unknown in this cancer. Dysfunctional metabolism has also been implicated in this cancer type with the identification of mutations in IDH1 and IDH2, which encode isocitrate dehydrogenase. Finally, nine of the tumours in this study harboured TP53 mutations.
References
Jiao, Y. et al. Exome sequencing indentifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas. Nat. Genet. 10.1038/ng.2813
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New mutations identified in intrahepatic cholangiocarcinoma. Nat Rev Clin Oncol 11, 2 (2014). https://doi.org/10.1038/nrclinonc.2013.222
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DOI: https://doi.org/10.1038/nrclinonc.2013.222
