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

Co-autores
Jiao, Yuchen
Pawlik, Timothy M.
Anders, Robert A.
Selaru, Florin M.
Streppel, Mirte M.
Lucas, Donald J.
Niknafs, Noushin
Guthrie, Violeta Beleva
Maitra, Anirban
Argani, Pedram
Offerhaus, G. Johan A.
Roa, Juan Carlos
Roberts, Lewis R.
Gores, Gregory J.
Popescu, Irinel
Alexandrescu, Sorin T.
Dima, Simona
Fassan, Matteo
Simbolo, Michele
Mafficini, Andrea
Capelli, Paola
Lawlor, Rita T.
Ruzzenente, Andrea
Guglielmi, Alfredo
Tortora, Giampaolo
de Braud, Filippo
Scarpa, Aldo
Jarnagin, William
Klimstra, David
Karchin, Rachel
Velculescu, Victor E.
Hruban, Ralph H.
Vogelstein, Bert
Kinzler, Kenneth W.
Papadopoulos, Nickolas
Wood, Laura D.
Título
Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas
Editorial
NATURE PUBLISHING GROUP
Revista
NATURE GENETICS
Lenguaje
en
Resumen
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.
Tipo de Recurso
Artículo original
Description
The authors wish to acknowledge the following funding sources: the Virginia and D.K. Ludwig Fund for Cancer Research
the Lustgarten Foundation for Pancreatic Cancer Research
US National Institutes of Health (NIH) grants P50 CA62924, K08DK090154 and EDRN U01CA086402
Associazione Italiana Ricerca Cancro (AIRC grants 12182, 11930, 6421 and IG 12214)
and Italian Cancer Genome Project FIRB RBAP10AHJB.
Los autores desean agradecer a las siguientes fuentes de financiación: el Fondo Virginia y D.K. Ludwig para la Investigación del Cáncer
la Fundación Lustgarten para la Investigación del Cáncer de Páncreas
las subvenciones P50 CA62924, K08DK090154 y EDRN U01CA086402 de los Institutos Nacionales de Salud (NIH) de EE. UU.
la Associazione Italiana Ricerca Cancro (subvenciones AIRC 12182, 11930, 6421 e IG 12214)
y el Proyecto Italiano del Genoma del Cáncer FIRB RBAP10AHJB.
doi
10.1038/ng.2813
Formato Recurso
pdf
Ubicación del archivo
http://dx.doi.org/10.1038/ng.2813
Disciplinas de la OCDE
Oncología
Genética Humana
Patología
Título de la cita (Recomendado-único)
Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas
Revista/Libro
NATURE GENETICS
Tipo de ruta
suscripción
Access Rights
restringido
Derechos de acceso
restringido
Identificador alternativo
PMID 24185509
Idioma
en
Identificador del recurso (Mandatado-único)
Artículo original
Versión del recurso (Recomendado-único)
versión publicada
Entidad financiadora
D.K. Ludwig Fund for Cancer Research#Lustgarten Foundation for Pancreatic Cancer Research#US National Institutes of Health (NIH) P50 CA62924#US National Institutes of Health (NIH) K08DK090154#US National Institutes of Health (NIH) EDRN U01CA086402#Associazione Italiana Ricerca Cancro (AIRC) 12182#Associazione Italiana Ricerca Cancro (AIRC) 11930#Associazione Italiana Ricerca Cancro (AIRC) 6421#Associazione Italiana Ricerca Cancro (AIRC) IG 12214#Italian Cancer Genome Project FIRB RBAP10AHJB#National Cancer Institute R01CA121113#National Cancer Institute P30CA006973#National Cancer Institute P30CA015083#National Cancer Institute P50CA062924
Referencia del Financiador (Mandatado si es aplicable-repetible)
D.K. Ludwig Fund for Cancer Research
Lustgarten Foundation for Pancreatic Cancer Research
US National Institutes of Health (NIH) P50 CA62924
US National Institutes of Health (NIH) K08DK090154
US National Institutes of Health (NIH) EDRN U01CA086402
Associazione Italiana Ricerca Cancro (AIRC) 12182
Associazione Italiana Ricerca Cancro (AIRC) 11930
Associazione Italiana Ricerca Cancro (AIRC) 6421
Associazione Italiana Ricerca Cancro (AIRC) IG 12214
Italian Cancer Genome Project FIRB RBAP10AHJB
National Cancer Institute R01CA121113
National Cancer Institute P30CA006973
National Cancer Institute P30CA015083
National Cancer Institute P50CA062924
Editorial
NATURE PUBLISHING GROUP
ISSN
1061-4036
Página de inicio (Recomendado-único)
1470
Página final (Recomendado-único)
U93
Categoría WOS
Genética y herencia
Genetics & Heredity
Formato
pdf
Id de Web of Science
WOS:000327715800013
Colecciones
Colección Publicaciones Científicas
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