| Literature DB >> 24185509 |
Yuchen Jiao1,2,3, Timothy M Pawlik3,4, Robert A Anders3,5, Florin M Selaru6, Mirte M Streppel5, Donald J Lucas7, Noushin Niknafs8, Violeta Beleva Guthrie8, Anirban Maitra3,5, Pedram Argani3,5, G Johan A Offerhaus9, Juan Carlos Roa10, Lewis R Roberts11, Gregory J Gores11, Irinel Popescu12, Sorin T Alexandrescu12, Simona Dima12, Matteo Fassan13,14, Michele Simbolo13,14, Andrea Mafficini13, Paola Capelli14, Rita T Lawlor13,14, Andrea Ruzzenente15, Alfredo Guglielmi15, Giampaolo Tortora16, Filippo de Braud17, Aldo Scarpa13,14, William Jarnagin18, David Klimstra19, Rachel Karchin8, Victor E Velculescu1,2,3, Ralph H Hruban3,5, Bert Vogelstein1,2,3, Kenneth W Kinzler1,2,3, Nickolas Papadopoulos1,2,3, Laura D Wood5.
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.Entities:
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Year: 2013 PMID： 24185509 PMCID： PMC4013720 DOI： 10.1038/ng.2813
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330