Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas
Copyright policy )Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas
Through exomic sequencing of 32 intrahepatic cholangiocarcinomas, we discovered frequent inactivating mutations in multiple chromatin-remodeling genes (including BAP1, ARID1A and PBRM1), and mutation in one of these genes occurred in almost half of the carcinomas sequenced. We also identified frequent mutations at previously reported hotspots in the IDH1 and IDH2 genes encoding metabolic enzymes in intrahepatic cholangiocarcinomas. In contrast, TP53 was the most frequently altered gene in a series of nine gallbladder carcinomas. These discoveries highlight the key role of dysregulated chromatin remodeling in intrahepatic cholangiocarcinomas.
- Mayo Clinic United States
- Johns Hopkins University United States
- Utrecht University Netherlands
- University of Padua Italy
- University of La Frontera Chile
Male, Tumor Suppressor Proteins, Liver Neoplasms, Mutation, Missense, Nuclear Proteins, Sequence Analysis, DNA, CANCERS, GALLBLADDER, CARCINOMA, PATHWAY, LIVER, OCCUR, IDH2, Survival Analysis, Cholangiocarcinoma, Cohort Studies, DNA-Binding Proteins, Bile Ducts, Intrahepatic, Bile Duct Neoplasms, Gene Frequency, Humans, genetics, Exome, Female, Ubiquitin Thiolesterase, Transcription Factors
Male, Tumor Suppressor Proteins, Liver Neoplasms, Mutation, Missense, Nuclear Proteins, Sequence Analysis, DNA, CANCERS, GALLBLADDER, CARCINOMA, PATHWAY, LIVER, OCCUR, IDH2, Survival Analysis, Cholangiocarcinoma, Cohort Studies, DNA-Binding Proteins, Bile Ducts, Intrahepatic, Bile Duct Neoplasms, Gene Frequency, Humans, genetics, Exome, Female, Ubiquitin Thiolesterase, Transcription Factors
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