Ontology type: schema:ScholarlyArticle Open Access: True
2013-12
AUTHORSYuchen Jiao, Timothy M Pawlik, Robert A Anders, Florin M Selaru, Mirte M Streppel, Donald J Lucas, Noushin Niknafs, Violeta Beleva Guthrie, Anirban Maitra, Pedram Argani, G Johan A Offerhaus, Juan Carlos Roa, Lewis R Roberts, Gregory J Gores, Irinel Popescu, Sorin T Alexandrescu, Simona Dima, Matteo Fassan, Michele Simbolo, Andrea Mafficini, Paola Capelli, Rita T Lawlor, Andrea Ruzzenente, Alfredo Guglielmi, Giampaolo Tortora, Filippo de Braud, Aldo Scarpa, William Jarnagin, David Klimstra, Rachel Karchin, Victor E Velculescu, Ralph H Hruban, Bert Vogelstein, Kenneth W Kinzler, Nickolas Papadopoulos, Laura D Wood
ABSTRACTThrough 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. More... »
PAGES1470-1473
http://scigraph.springernature.com/pub.10.1038/ng.2813
DOIhttp://dx.doi.org/10.1038/ng.2813
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1049645772
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/24185509
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