The COSMIC Cancer Gene Census: describing genetic dysfunction across all human cancers

被引：1021

作者：

Sondka, Zbyslaw ^{[1
,2
]}

Bamford, Sally ^{[1
]}

Cole, Charlotte G. ^{[1
]}

Ward, Sari A. ^{[1
]}

Dunham, Ian ^{[2
,3
]}

Forbes, Simon A. ^{[1
]}

机构：

[1] Wellcome Sanger Inst, Wellcome Genome Campus, Cambridge, England

[2] Open Targets, Wellcome Genome Campus, Cambridge, England

[3] European Bioinformat Inst EMBL EBI, European Mol Biol Lab, Wellcome Genome Campus, Cambridge, England

来源：

NATURE REVIEWS CANCER | 2018年 / 18卷 / 11期

基金：

英国惠康基金;

关键词：

CELL-CYCLE PROGRESSION; TRANSCRIPTIONAL REGULATION; ONCOGENIC ROLE; TARGET GENES; EXPRESSION; BREAST; MUTATIONS; PROLIFERATION; FOXA1; INHIBITION;

D O I：

10.1038/s41568-018-0060-1

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The Catalogue of Somatic Mutations in Cancer (COSMIC) Cancer Gene Census (CGC) is an expert-curated description of the genes driving human cancer that is used as a standard in cancer genetics across basic research, medical reporting and pharmaceutical development. After a major expansion and complete re-evaluation, the 2018 CGC describes in detail the effect of 719 cancer-driving genes. The recent expansion includes functional and mechanistic descriptions of how each gene contributes to disease generation in terms of the key cancer hallmarks and the impact of mutations on gene and protein function. These functional characteristics depict the extraordinary complexity of cancer biology and suggest multiple cancer-related functions for many genes, which are often highly tissue-dependent or tumour stage-dependent. The 2018 CGC encompasses a second tier, describing an expanding list of genes (currently 145) from more recent cancer studies that show supportive but less detailed indications of a role in cancer.

引用

页码：696 / 705

页数：10

共 108 条

[1] Phosphorylated retinoblastoma protein complexes with pp32 and inhibits pp32-mediated apoptosis [J].

Adegbola, O ;

Pasternack, GR .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2005, 280 (16) :15497-15502

[2] Retinoblastoma protein expression is an independent predictor of both radiation response and survival in muscle-invasive bladder cancer [J].

Agerbaek, M ;

Alsner, J ;

Marcussen, N ;

Lundbeck, F ;

von der Maase, H .

BRITISH JOURNAL OF CANCER, 2003, 89 (02) :298-304

[3]

[Anonymous], CURR PROTOC HUM GENE

[4]

[Anonymous], SCI REP UK

[5] ATM and ATR signaling at a glance [J].

Awasthi, Poorwa ;

Foiani, Marco ;

Kumar, Amit .

JOURNAL OF CELL SCIENCE, 2015, 128 (23) :4255-4262

[6] MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism [J].

Bandopadhayay, Pratiti ;

Ramkissoon, Lori A. ;

Jain, Payal ;

Bergthold, Guillaume ;

Wala, Jeremiah ;

Zeid, Rhamy ;

Schumacher, Steven E. ;

Urbanski, Laura ;

O'Rourke, Ryan ;

Gibson, William J. ;

Pelton, Kristine ;

Ramkissoon, Shakti H. ;

Han, Harry J. ;

Zhu, Yuankun ;

Choudhari, Namrata ;

Silva, Amanda ;

Boucher, Katie ;

Henn, Rosemary E. ;

Kang, Yun Jee ;

Knoff, David ;

Paolella, Brenton R. ;

Gladden-Young, Adrianne ;

Varlet, Pascale ;

Pages, Melanie ;

Horowitz, Peleg M. ;

Federation, Alexander ;

Malkin, Hayley ;

Tracy, Adam A. ;

Seepo, Sara ;

Ducar, Matthew ;

Van Hummelen, Paul ;

Santi, Mariarita ;

Buccoliero, Anna Maria ;

Scagnet, Mirko ;

Bowers, Daniel C. ;

Giannini, Caterina ;

Puget, Stephanie ;

Hawkins, Cynthia ;

Tabori, Uri ;

Klekner, Almos ;

Bognar, Laszlo ;

Burger, Peter C. ;

Eberhart, Charles ;

Rodriguez, Fausto J. ;

Hill, D. Ashley ;

Mueller, Sabine ;

Haas-Kogan, Daphne A. ;

Phillips, Joanna J. ;

Santagata, Sandro ;

Stiles, Charles D. .

NATURE GENETICS, 2016, 48 (03) :273-282

[7] UTX inhibition as selective epigenetic therapy against TAL1-driven T-cell acute lymphoblastic leukemia [J].

Benyoucef, Aissa ;

Palii, Carmen G. ;

Wang, Chaochen ;

Porter, Christopher J. ;

Chu, Alphonse ;

Dai, Fengtao ;

Tremblay, Veronique ;

Rakopoulos, Patricia ;

Singh, Kulwant ;

Huang, Suming ;

Pflumio, Francoise ;

Hebert, Josee ;

Couture, Jean-Francois ;

Perkins, Theodore J. ;

Ge, Kai ;

Dilworth, F. Jeffrey ;

Brand, Marjorie .

GENES & DEVELOPMENT, 2016, 30 (05) :508-521

[8] FOXA1 represses the molecular phenotype of basal breast cancer cells [J].

Bernardo, G. M. ;

Bebek, G. ;

Ginther, C. L. ;

Sizemore, S. T. ;

Lozada, K. L. ;

Miedler, J. D. ;

Anderson, L. A. ;

Godwin, A. K. ;

Abdul-Karim, F. W. ;

Slamon, D. J. ;

Keri, R. A. .

ONCOGENE, 2013, 32 (05) :554-563

[9] FOXA1: a transcription factor with parallel functions in development and cancer [J].

Bernardo, Gina M. ;

Keri, Ruth A. .

BIOSCIENCE REPORTS, 2012, 32 (02) :113-130

[10] Hdac3 Is Essential for the Maintenance of Chromatin Structure and Genome Stability [J].

Bhaskara, Srividya ;

Knutson, Sarah K. ;

Jiang, Guochun ;

Chandrasekharan, Mahesh B. ;

Wilson, Andrew J. ;

Zheng, Siyuan ;

Yenamandra, Ashwini ;

Locke, Kimberly ;

Yuan, Jia-ling ;

Bonine-Summers, Alyssa R. ;

Wells, Christina E. ;

Kaiser, Jonathan F. ;

Washington, M. Kay ;

Zhao, Zhongming ;

Wagner, Florence F. ;

Sun, Zu-Wen ;

Xia, Fen ;

Holson, Edward B. ;

Khabele, Dineo ;

Hiebert, Scott W. .

CANCER CELL, 2010, 18 (05) :436-447

← 1 2 3 4 5 6 7 8 9 10 →