Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-12

AUTHORS

Yuchen 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

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. More... »

PAGES

1470-1473

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.2813

DOI

http://dx.doi.org/10.1038/ng.2813

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1049645772

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24185509


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489 https://www.grid.ac/institutes/grid.5611.3 schema:alternateName University of Verona
490 schema:name Applied Research on Cancer Network, Miriam Cherubini Research Centre, University of Verona, Verona, Italy.
491 Department of Medicine, Medical Oncology Unit, University of Verona, Verona, Italy.
492 Department of Pathology and Diagnostics, University of Verona, Verona, Italy.
493 Department of Surgery, University of Verona, Verona, Italy.
494 rdf:type schema:Organization
495 https://www.grid.ac/institutes/grid.66875.3a schema:alternateName Mayo Clinic
496 schema:name Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota, USA.
497 rdf:type schema:Organization
498 https://www.grid.ac/institutes/grid.7692.a schema:alternateName University Medical Center Utrecht
499 schema:name Department of Pathology, University Medical Center, Utrecht, The Netherlands.
500 rdf:type schema:Organization
 




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