Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder

被引：590

作者：

Gui, Yaoting ^{[1
]}

Guo, Guangwu ^{[2
]}

Huang, Yi ^{[1
]}

Hu, Xueda ^{[2
]}

Tang, Aifa ^{[1
,3
]}

Gao, Shengjie ^{[2
]}

Wu, Renhua ^{[2
]}

Chen, Chao ^{[2
]}

Li, Xianxin ^{[1
]}

Zhou, Liang ^{[1
]}

He, Minghui ^{[2
]}

Li, Zesong ^{[1
,3
]}

Sun, Xiaojuan ^{[3
]}

Jia, Wenlong ^{[2
]}

Chen, Jinnong ^{[2
]}

Yang, Shangming ^{[2
]}

Zhou, Fangjian ^{[4
]}

Zhao, Xiaokun ^{[5
]}

Wan, Shengqing ^{[2
]}

Ye, Rui ^{[2
]}

Liang, Chaozhao ^{[6
]}

Liu, Zhisheng ^{[2
]}

Huang, Peide ^{[2
]}

Liu, Chunxiao ^{[7
]}

Jiang, Hui ^{[2
]}

Wang, Yong ^{[1
]}

Zheng, Hancheng ^{[2
]}

Sun, Liang ^{[1
]}

Liu, Xingwang ^{[2
]}

Jiang, Zhimao ^{[1
]}

Feng, Dafei ^{[2
]}

Chen, Jing ^{[1
]}

Wu, Song ^{[1
]}

Zou, Jing ^{[2
]}

Zhang, Zhongfu ^{[1
]}

Yang, Ruilin ^{[1
]}

Zhao, Jun ^{[1
]}

Xu, Congjie ^{[1
]}

Yin, Weihua ^{[1
]}

Guan, Zhichen ^{[1
]}

Ye, Jiongxian ^{[1
]}

Zhang, Hong ^{[1
]}

Li, Jingxiang ^{[2
]}

Kristiansen, Karsten ^{[2
,8
]}

Nickerson, Michael L. ^{[9
]}

Theodorescu, Dan ^{[10
,11
]}

Li, Yingrui ^{[2
]}

Zhang, Xiuqing ^{[2
]}

Li, Songgang ^{[2
]}

Wang, Jian ^{[2
]}

机构：

[1] Peking Univ, Shenzhen Hosp, Guangdong & Shenzhen Key Lab Male Reprod Med & Ge, Inst Urol,Shenzhen PKU HKUST Med Ctr, Shenzhen, Peoples R China

[2] BGI Shenzhen, Shenzhen, Peoples R China

[3] Shenzhen Univ, Affiliated Hosp 1, Shenzhen Peoples Hosp 2, Shenzhen, Peoples R China

[4] Sun Yat Sen Univ, Ctr Canc, Dept Urol, Guangzhou 510275, Guangdong, Peoples R China

[5] Cent So Univ, Dept Urol, Xiangya Hosp 2, Changsha, Hunan, Peoples R China

[6] Anhui Med Univ, Affiliated Hosp 1, Dept Urol, Hefei, Peoples R China

[7] So Med Univ, Zhujiang Hosp, Dept Urol, Guangzhou, Guangdong, Peoples R China

[8] Univ Copenhagen, Dept Biol, Copenhagen, Denmark

[9] NCI, Canc & Inflammat Program, US Natl Inst Hlth NIH, Frederick, MD 21701 USA

[10] Univ Colorado, Dept Surg, Ctr Comprehens Canc, Aurora, CO USA

[11] Univ Colorado, Dept Pharmacol, Ctr Comprehens Canc, Aurora, CO USA

来源：

NATURE GENETICS | 2011年 / 43卷 / 09期

基金：

高等学校博士学科点专项科研基金; 国家高技术研究发展计划(863计划);

关键词：

SOMATIC MUTATIONS; CANCER; PATHWAYS; FGFR3;

D O I：

10.1038/ng.907

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Transitional cell carcinoma (TCC) is the most common type of bladder cancer. Here we sequenced the exomes of nine individuals with TCC and screened all the somatically mutated genes in a prevalence set of 88 additional individuals with TCC with different tumor stages and grades. In our study, we discovered a variety of genes previously unknown to be mutated in TCC. Notably, we identified genetic aberrations of the chromatin remodeling genes (UTX, MLL-MLL3, CREBBP-EP300, NCOR1, ARID1A and CHD6) in 59% of our 97 subjects with TCC. Of these genes, we showed UTX to be altered substantially more frequently in tumors of low stages and grades, highlighting its potential role in the classification and diagnosis of bladder cancer. Our results provide an overview of the genetic basis of TCC and suggest that aberration of chromatin regulation might be a hallmark of bladder cancer.

引用

页码：875 / 878

页数：4

共 30 条

[1] Bakkar AA, 2003, CANCER RES, V63, P8108
[2] CAIRNS P, 1991, ONCOGENE, V6, P2305
[3] Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas
Cappellen, D
De Oliveira, C
Ricol, D
de Medina, SGD
Bourdin, J
Sastre-Garau, X
Chopin, D
Thiery, JP
Radvanyi, F
[J]. NATURE GENETICS, 1999, 23 (01) : 18 - 20
[4] Covalent histone modifications - miswritten, misinterpreted and mis-erased in human cancers
Chi, Ping
Allis, C. David
Wang, Gang Greg
[J]. NATURE REVIEWS CANCER, 2010, 10 (07) : 457 - 469
[5] P53 MUTATIONS IN HUMAN BLADDER-CANCER - GENOTYPIC VERSUS PHENOTYPIC PATTERNS
CORDONCARDO, C
DALBAGNI, G
SAEZ, GT
OLIVA, MR
ZHANG, ZF
ROSAI, J
REUTER, VE
PELLICER, A
[J]. INTERNATIONAL JOURNAL OF CANCER, 1994, 56 (03) : 347 - 353
[6] Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes
Dalgliesh, Gillian L.
Furge, Kyle
Greenman, Chris
Chen, Lina
Bignell, Graham
Butler, Adam
Davies, Helen
Edkins, Sarah
Hardy, Claire
Latimer, Calli
Teague, Jon
Andrews, Jenny
Barthorpe, Syd
Beare, Dave
Buck, Gemma
Campbell, Peter J.
Forbes, Simon
Jia, Mingming
Jones, David
Knott, Henry
Kok, Chai Yin
Lau, King Wai
Leroy, Catherine
Lin, Meng-Lay
McBride, David J.
Maddison, Mark
Maguire, Simon
McLay, Kirsten
Menzies, Andrew
Mironenko, Tatiana
Mulderrig, Lee
Mudie, Laura
O'Meara, Sarah
Pleasance, Erin
Rajasingham, Arjunan
Shepherd, Rebecca
Smith, Raffaella
Stebbings, Lucy
Stephens, Philip
Tang, Gurpreet
Tarpey, Patrick S.
Turrell, Kelly
Dykema, Karl J.
Khoo, Sok Kean
Petillo, David
Wondergem, Bill
Anema, John
Kahnoski, Richard J.
Teh, Bin Tean
Stratton, Michael R.
[J]. NATURE, 2010, 463 (7279) : 360 - 363
[7] The versatile mixed lineage leukaemia gene MLL and its many associations in leukaemogenesis
Daser, A
Rabbitts, TH
[J]. SEMINARS IN CANCER BIOLOGY, 2005, 15 (03) : 175 - 188
[8] Somatic mutations affect key pathways in lung adenocarcinoma
Ding, Li
Getz, Gad
Wheeler, David A.
Mardis, Elaine R.
McLellan, Michael D.
Cibulskis, Kristian
Sougnez, Carrie
Greulich, Heidi
Muzny, Donna M.
Morgan, Margaret B.
Fulton, Lucinda
Fulton, Robert S.
Zhang, Qunyuan
Wendl, Michael C.
Lawrence, Michael S.
Larson, David E.
Chen, Ken
Dooling, David J.
Sabo, Aniko
Hawes, Alicia C.
Shen, Hua
Jhangiani, Shalini N.
Lewis, Lora R.
Hall, Otis
Zhu, Yiming
Mathew, Tittu
Ren, Yanru
Yao, Jiqiang
Scherer, Steven E.
Clerc, Kerstin
Metcalf, Ginger A.
Ng, Brian
Milosavljevic, Aleksandar
Gonzalez-Garay, Manuel L.
Osborne, John R.
Meyer, Rick
Shi, Xiaoqi
Tang, Yuzhu
Koboldt, Daniel C.
Lin, Ling
Abbott, Rachel
Miner, Tracie L.
Pohl, Craig
Fewell, Ginger
Haipek, Carrie
Schmidt, Heather
Dunford-Shore, Brian H.
Kraja, Aldi
Crosby, Seth D.
Sawyer, Christopher S.
[J]. NATURE, 2008, 455 (7216) : 1069 - 1075
[9] Getz G, 2007, SCIENCE, V317, DOI 10.1126/science.1138764
[10] Patterns of somatic mutation in human cancer genomes
Greenman, Christopher
Stephens, Philip
Smith, Raffaella
Dalgliesh, Gillian L.
Hunter, Christopher
Bignell, Graham
Davies, Helen
Teague, Jon
Butler, Adam
Edkins, Sarah
O'Meara, Sarah
Vastrik, Imre
Schmidt, Esther E.
Avis, Tim
Barthorpe, Syd
Bhamra, Gurpreet
Buck, Gemma
Choudhury, Bhudipa
Clements, Jody
Cole, Jennifer
Dicks, Ed
Forbes, Simon
Gray, Kris
Halliday, Kelly
Harrison, Rachel
Hills, Katy
Hinton, Jon
Jenkinson, Andy
Jones, David
Menzies, Andy
Mironenko, Tatiana
Perry, Janet
Raine, Keiran
Richardson, Dave
Shepherd, Rebecca
Small, Alexandra
Tofts, Calli
Varian, Jennifer
Webb, Tony
West, Sofie
Widaa, Sara
Yates, Andy
Cahill, Daniel P.
Louis, David N.
Goldstraw, Peter
Nicholson, Andrew G.
Brasseur, Francis
Looijenga, Leendert
Weber, Barbara L.
Chiew, Yoke-Eng
[J]. NATURE, 2007, 446 (7132) : 153 - 158

← 1 2 3 →