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Nat Genet. 2013 Dec;45(12):1470-3. doi: 10.1038/ng.2813. Epub 2013 Nov 3.

Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas.

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1
1] The Ludwig Center, Johns Hopkins University, Baltimore, Maryland, USA. [2] Howard Hughes Medical Institute, Johns Hopkins University, Baltimore, Maryland, USA. [3] Sidney Kimmel Comprehensive Cancer Center, Baltimore, Maryland, USA. [4].

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.

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PMID:
24185509
PMCID:
PMC4013720
DOI:
10.1038/ng.2813
[Indexed for MEDLINE]
Free PMC Article
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