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

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.

SUBMITTER: Jiao Y 

PROVIDER: S-EPMC4013720 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature

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

Jiao Yuchen Y   Pawlik Timothy M TM   Anders Robert A RA   Selaru Florin M FM   Streppel Mirte M MM   Lucas Donald J DJ   Niknafs Noushin N   Guthrie Violeta Beleva VB   Maitra Anirban A   Argani Pedram P   Offerhaus G Johan A GJA   Roa Juan Carlos JC   Roberts Lewis R LR   Gores Gregory J GJ   Popescu Irinel I   Alexandrescu Sorin T ST   Dima Simona S   Fassan Matteo M   Simbolo Michele M   Mafficini Andrea A   Capelli Paola P   Lawlor Rita T RT   Ruzzenente Andrea A   Guglielmi Alfredo A   Tortora Giampaolo G   de Braud Filippo F   Scarpa Aldo A   Jarnagin William W   Klimstra David D   Karchin Rachel R   Velculescu Victor E VE   Hruban Ralph H RH   Vogelstein Bert B   Kinzler Kenneth W KW   Papadopoulos Nickolas N   Wood Laura D LD  

Nature genetics 20131103 12

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 seri  ...[more]

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