Cooperation and antagonism among cancer genes: The renal cancer paradigm

Cancer Research

Volumn 73, Issue 14, 2013, Pages 4173-4179

  Peña Llopis, Samuel ^a,b,c   Christie, Alana ^c   Xie, Xian Jin ^c   Brugarolas, James ^a,b,c  

^a Internal Medicine   (United States)

^b Departments of Developmental Biology   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BAP1 GENE; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CHROMOSOMAL LOCALIZATION; CHROMOSOME 3P; GENE DELETION; GENE DOSAGE; GENE FREQUENCY; GENE FUNCTION; GENE INTERACTION; GENE LOCATION; GENE MUTATION; HUMAN; KIDNEY CARCINOMA; NONHUMAN; PBRM1 GENE; PRIORITY JOURNAL; REVIEW; SETD2 GENE; TUMOR GENE; VHL GENE;

ANIMALS; CARCINOGENESIS; CARCINOMA, RENAL CELL; GENES, TUMOR SUPPRESSOR; HUMANS; KIDNEY NEOPLASMS; MUTATION;

EID: 84880898004     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-13-0360     Document Type: Review

References (41)

1. Lander ES. Initial impact of the sequencing of the human genome. Nature 2011;470:187-97.
2. Stratton MR, Campbell PJ, Futreal PA. The cancer genome. Nature 2009;458:719-24.
3. Haber DA, Gray NS, Baselga J. The evolving war on cancer. Cell 2011;145:19-24.
4. Sellers WR. A blueprint for advancing genetics-based cancer therapy. Cell 2011;147:26-31.
5. Gerlinger M, Rowan AJ, Horswell S, Larkin J, Endesfelder D, Gronroos E, et al. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med 2012;366:883-92.
6. Greaves M, Maley CC. Clonal evolution in cancer. Nature 2012;481: 306-13.
7. Tomasetti C, Vogelstein B, Parmigiani G. Half or more of the somatic mutations in cancers of self-renewing tissues originate prior to tumor initiation. Proc Natl Acad Sci U S A 2013;110:1999-2004.
8. Pena-Llopis S, Vega-Rubín-de-Celis S, Liao A, Leng N, Pavía-Jimenez A, Wang S, et al. BAP1 loss defines a new class of renal cell carcinoma. Nat Genet 2012;44:751-9.
9. Sivanand S, Pena-Llopis S, Zhao H, Kucejova B, Spence P, Pavia-Jimenez A, et al. A validated tumorgraft model reveals activity of dovitinib against renal cell carcinoma. Sci Transl Med 2012;4: 137-75.
10. Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993;260:1317-20.
11. Gnarra JR, Tory K, Weng Y, Schmidt L, Wei MH, Li H, et al. Mutations of the VHL tumour suppressor gene in renal carcinoma. Nat Genet 1994; 7:85-90.
12. Herman JG, Latif F, WengY, LermanMI, Zbar B, Liu S, et al. Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma. Proc Natl Acad Sci U S A 1994;91:9700-4.
13. Nickerson ML, Jaeger E, Shi Y, Durocher JA, Mahurkar S, Zaridze D, et al. Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors. Clin Cancer Res 2008;14:4726-34.
14. Catalogue of Somatic Mutations in Cancer [cited 2013 Jan 26]. Available from: http://www.sanger.ac.uk/genetics/CGP/cosmic.
15. 2 sensing and cancer. Nat Rev Cancer 2008;8:865-73.
16. Dalgliesh GL, Furge K, Greenman C, Chen L, Bignell G, Butler A, et al. Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature 2010;463:360-3.
17. Guo G, Gui Y, Gao S, Tang A, Hu X, Huang Y, et al. Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. Nat Genet 2012; 44:17-9.
18. Varela I, Tarpey P, Raine K, Huang D, Ong CK, Stephens P, et al. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature 2011;469:539-42.
19. Beroukhim R, Brunet JP, Di Napoli A, Mertz KD, Seeley A, Pires MM, et al. Patterns of gene expression and copy-number alterations in vonhippel lindau disease-associated and sporadic clear cell carcinoma of the kidney. Cancer Res 2009;69:4674-81.
20. Sun XJ, Wei J, Wu XY, Hu M, Wang L, Wang HH, et al. Identification and characterization of a novel human histone H3 lysine 36-specific methyltransferase. J Biol Chem 2005;280: 35261-71.
21. Edmunds JW, Mahadevan LC, Clayton AL. Dynamic histone H3 methylation during gene induction: HYPB/Setd2 mediates all H3K36 trimethylation. EMBO J 2008;27:406-20.
22. Jensen DE, Proctor M, Marquis ST, Gardner HP, Ha SI, Chodosh LA, et al. BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene 1998;16:1097-112.
23. Ventii KH, Devi NS, Friedrich KL, Chernova TA, Tighiouart M, Van Meir EG, et al. BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization. Cancer Res 2008;68:6953-62.
24. Scheuermann JC, deAyala Alonso AG, Oktaba K, Ly-Hartig N, McGinty RK, Fraterman S, et al. Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB. Nature 2010;465: 243-7.
25. Machida YJ, Machida Y, Vashisht AA, Wohlschlegel JA Dutta A. The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1. J Biol Chem 2009;284: 34179-88.
26. Misaghi S, Ottosen S, Izrael-Tomasevic A, Arnott D, Lamkanfi M, Lee J, et al. Association of C-terminal ubiquitin hydrolase BRCA1-associated protein 1 with cell cycle regulator host cell factor 1. Mol Cell Biol 2009;29:2181-92.
27. Dey A, Seshasayee D, Noubade R, French DM, Liu J, Chaurushiya MS, et al. Loss of the tumor suppressor BAP1 causes myeloid transformation. Science 2012;337:1541-6.
28. Ruan HB, Han X, Li MD, Singh JP, Qian K, Azarhoush S, et al. OGlcNAc transferase/host cell factor C1 complex regulates gluconeogenesis by modulating PGC-1alpha stability. Cell Metab 2012;16: 226-37.
29. Hakimi AA, Chen YB, Wren J, Gonen M, Abdel-Wahab O, Heguy A, et al. Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma. Eur Urol 2012;63: 848-54.
30. The Cancer Genome Atlas [cited 2013 Jan 26]. Available at: https://tcga-data.nci.nih.gov/tcga.
31. Schuster-Bockler B, Lehner B. Chromatin organization is a major influence on regional mutation rates in human cancer cells. Nature 2012;488:504-7.
32. Kapur P, Pena-Llopis S, Christie A, Zhrebker L, Pavía-Jimenez A, Kimryn Rathmell W, et al. Effects on survival of BAP1 and PBRM1 mutations in sporadic clear cell renal cell carcinoma: a retrospective analysis with independent validation. Lancet Oncol 2013;14: 159-67.
33. Brugarolas J. Research translation and personalized medicine. In: Figlin RA, Rathmell WK, Rini BI, editors. Renal cell carcinoma: New York: Springer; 2012. p. 161-91.
34. Collado M, Serrano M. Senescence in tumours: evidence from mice and humans. Nat Rev Cancer 2010;10:51-7.
35. Mandriota SJ, Turner KJ, Davies DR, Murray PG, Morgan NV, Sowter HM, et al. HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron. Cancer Cell 2002;1:459-68.
36. Montani M, Heinimann K, von Teichman A, Rudolph T, Perren A, Moch H. VHL-gene deletion in single renal tubular epithelial cells and renal tubular cysts: further evidence for a cyst-dependent progression pathway of clear cell renal carcinoma in von Hippel-Lindau disease. Am J Surg Pathol 2010;34:806-15.
37. Bott M, Brevet M, Taylor BS, Shimizu S, Ito T, Wang L, et al. The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma. Nat Genet 2011; 43:668-72.
38. Testa JR, Cheung M, Pei J, Below JE, Tan Y, Sementino E, et al. Germline BAP1 mutations predispose to malignant mesothelioma. Nat Genet 2011;43:1022-5.
39. Harbour JW, Onken MD, Roberson ED, Duan S, Cao L, Worley LA, et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 2010;330:1410-3.
40. Wiesner T, Obenauf AC, Murali R, Fried I, Griewank KG, Ulz P, et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet 2011;43:1018-21.
41. Abdel-Rahman MH, Pilarski R, Cebulla CM, Massengill JB, Christopher BN, Boru G, et al. Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J Med Genet 2011;48:856-9.