Exome sequencing identifies frequent inactivating mutations in intrahepatic cholangiocarcinomas

Exome sequencing of 32 intrahepatic cholangiocarcinomas has revealed recurrent inactivating mutations in several genes involved in chromatin remodelling that were previously unknown in this type of cancer. The study also identified frequent mutations at previously reported hotspots in the genes encoding metabolic enzymes. Read more here.

Study mentioned: Jiao Y, et al. Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas. Nat Genet. 2013 Dec;45(12):1470-3. PMID: 24185509