Unknown

Dataset Information

0

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

Json Xml
altmetric image

Publications

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]

Similar Datasets

Genomics Exome Sequencing Reveals Frequent Inactivating Mutations in BAP1, ARID1A, and PBRM1 in Intrahepatic Cholangiocarcinomas
| EGAS00001001108 | EGA
Unknown Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
| S-EPMC3030920 | biostudies-literature
Unknown Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12.
| S-EPMC4758603 | biostudies-literature
Unknown Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
| S-EPMC4182560 | biostudies-literature
Unknown Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma.
| S-EPMC3076894 | biostudies-literature
Unknown PBRM1 and BAP1 as novel targets for renal cell carcinoma.
| S-EPMC4222578 | biostudies-literature
Methylation profiling Mutations in IDH1 and IDH2 are associated with DNA hypermethylation in intrahepatic cholangiocarcinomas
2012-06-11 | GSE32079 | GEO
Transcriptomics Mutations in IDH1 and IDH2 are associated with DNA hypermethylation in intrahepatic cholangiocarcinomas
2012-06-10 | E-GEOD-32079 | biostudies-arrayexpress
Unknown Mutations in isocitrate dehydrogenase 1 and 2 occur frequently in intrahepatic cholangiocarcinomas and share hypermethylation targets with glioblastomas.
| S-EPMC3500578 | biostudies-literature
Unknown Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas
| S-EPMC10644541 | biostudies-literature