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. Comment in Genetics: genetics of biliary tract cancer. [Nat Rev Gastroenterol Hepatol. 2013]

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

Fassan, Matteo;Simbolo, Michele;MAFFICINI, Andrea;Capelli, Paola;LAWLOR, Rita Teresa;RUZZENENTE, Andrea;GUGLIELMI, Alfredo;TORTORA, GIAMPAOLO;SCARPA, Aldo;PAPADOPOULOS, Nikolaos;
2013

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. Comment in Genetics: genetics of biliary tract cancer. [Nat Rev Gastroenterol Hepatol. 2013]
CANCERS, GALLBLADDER, CARCINOMA, PATHWAY, LIVER, OCCUR, IDH2
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/714371
Citazioni
  • ???jsp.display-item.citation.pmc??? 280
  • Scopus 486
  • ???jsp.display-item.citation.isi??? 477
social impact