Paper Title

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

Authors

Profile picture of Bert Vogelstein
Bert Vogelstein
Profile picture of Kenneth W. Kinzler
Kenneth W. Kinzler
Profile picture of Nickolas Papadopoulos
Nickolas Papadopoulos
Profile picture of Laura D Wood
Laura D Wood

Journal

Nature Genetics External link

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DOI

DOI Icon 10.1038/ng.2813

Publication Info

Volume: 45 | Issue: 12 | Pages: 1470-1473

Published On

November, 2013

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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.

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