Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas.
Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas.
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DOI：
10.1038/ng.2813
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发表时间：
2013-12
期刊：
影响因子：
30.8
通讯作者：
Wood, Laura D.
中科院分区：
文献类型：
--
作者：
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.
通过对32例肝内胆管癌的外显子组测序，我们发现多个染色质重塑基因（包括BAP1、ARID1A和PBRM1）经常发生失活突变，并且这些基因中的一个突变发生在几乎一半的测序癌中。我们还在先前报道的肝内胆管癌中编码代谢酶的IDH1和IDH2基因的热点处发现了频繁的突变。相比之下，TP53是一系列九种胆囊癌中最常见的改变基因。这些发现强调了染色质重构失调在肝内胆管癌中的关键作用。
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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影响因子：
64.8
作者：
Varela, Ignacio;Tarpey, Patrick;Raine, Keiran;Huang, Dachuan;Ong, Choon Kiat;Stephens, Philip;Davies, Helen;Jones, David;Lin, Meng-Lay;Teague, Jon;Bignell, Graham;Butler, Adam;Cho, Juok;Dalgliesh, Gillian L.;Galappaththige, Danushka;Greenman, Chris;Hardy, Claire;Jia, Mingming;Latimer, Calli;Lau, King Wai;Marshall, John;McLaren, Stuart;Menzies, Andrew;Mudie, Laura;Stebbings, Lucy;Largaespada, David A.;Wessels, L. F. A.;Richard, Stephane;Kahnoski, Richard J.;Anema, John;Tuveson, David A.;Perez-Mancera, Pedro A.;Mustonen, Ville;Fischer, Andrej;Adams, David J.;Rust, Alistair;Chan-on, Waraporn;Subimerb, Chutima;Dykema, Karl;Furge, Kyle;Campbell, Peter J.;Teh, Bin Tean;Stratton, Michael R.;Futreal, P. Andrew
通讯作者：
Futreal, P. Andrew
影响因子：
7.5
作者：
Parwani, AV;Geradts, J;Argani, P
通讯作者：
Argani, P
影响因子：
8
作者：
Pollock, P. M.;Gartside, M. G.;Dejeza, L. C.;Powell, M. A.;Mallon, M. A.;Davies, H.;Mohammadi, M.;Futreal, P. A.;Stratton, M. R.;Trent, J. M.;Goodfellow, P. J.
通讯作者：
Goodfellow, P. J.
DOI：
10.1038/nrgastro.2011.131
发表时间：
2011-08-02
期刊：
Nature reviews. Gastroenterology & hepatology
影响因子：
--
作者：
通讯作者：
--
影响因子：
7.5
作者：
Xu, Rui Feng;Sun, Ji Ping;Liao, Wang Jun
通讯作者：
Liao, Wang Jun