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Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas.
- Source :
-
Nature genetics [Nat Genet] 2013 Dec; Vol. 45 (12), pp. 1470-1473. Date of Electronic Publication: 2013 Nov 03. - Publication Year :
- 2013
-
Abstract
- 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.
- Subjects :
- Bile Duct Neoplasms
Bile Ducts, Intrahepatic
Cholangiocarcinoma epidemiology
Cohort Studies
DNA-Binding Proteins
Exome genetics
Female
Gene Frequency
Humans
Liver Neoplasms epidemiology
Male
Sequence Analysis, DNA
Survival Analysis
Cholangiocarcinoma genetics
Liver Neoplasms genetics
Mutation, Missense
Nuclear Proteins genetics
Transcription Factors genetics
Tumor Suppressor Proteins genetics
Ubiquitin Thiolesterase genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1546-1718
- Volume :
- 45
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 24185509
- Full Text :
- https://doi.org/10.1038/ng.2813