Page 62 - Read Online
P. 62
Page 8 of 9 Le et al. J Transl Genet Genom 2018;2:17. I https://doi.org/10.20517/jtgg.2018.28
21. Kroeger N, Klatte T, Chamie K, Rao PN. Deletions of chromosomes 3p and 14q molecularly subclassify clear cell renal cell carcinoma.
Cancer 2013;119:1547-54.
22. Motzer RJ, Jonasch E, Agarwal N, Bhayani S, Bro WP, et al. Kidney Cancer, Version 2.2017, NCCN Clinical Practice Guidelines in
Oncology. J Natl Compr Canc Netw 2017;15:804-34.
23. Rodgers JL, Bayeh L, Scheuermann TH, Longgood J, Key J, et al. Development of inhibitors of the PAS-B domain of the HIF-2α
transcription factor. J Med Chem 2013;56:1739-47.
24. Wallace EM, Rizzi JP, Han G, Wehn PM, Cao Z, et al. A small molecule antagonist of HIF-2α is efficacious in pre-clinical models of renal
cell carcinoma. Cancer Res 2016;76:5491-500.
25. Kapitsinou PP, Haase VH. The VHL tumor suppressor and HIF: insights from genetic studies in mice. Cell Death Differ 2008;15:650-9.
26. Cancer Genome Atlas Research Network. Comprehensive molecular profiling of lung adenocarcinoma. Nature 2014;511:543-50.
27. Hakimi AA, Chen YB, Wren J, Gonen M, Abdel-Wahab O, et al. Clinical and pathologic impact of select chromatin-modulating tumor
suppressors in clear cell renal cell carcinom. Eur Urol 2013;63:848-54.
28. Pena-Llopis S, Vega-Rubin-de-Celis S, Liao A, Leng N, Pavía-Jiménez A, et al. BAP1 loss defines a new class of renal cell carcinoma. Nat
Genet 2012;44:751-9.
29. Varela I, Tarpey P, Raine K, Huang D, Ong CK, et al. Exome sequencing identifies frequent mutation of SWI/SNF complex gene PBRM1 in
renal carcinoma. Nature 2011;469:539-42.
30. Nargund AM, Pham CG, Dong Y, Wang PI, Osmangeyoglu HU, et al. The SWI/SNF protein PBRM1 restrains VHL-loss-driven clear cell
renal cell carcinoma. Cell Rep 2017;18:2893-906.
31. Biegel JA, Busse TM, Weissman BE. SWI/SNF chromatin remodeling complexes and cancer. Am J Med Genet 2014;166:350-66.
32. Hargreaves DC, Crabtree GR. ATP-dependent chromatin remodeling genetics, genomics, and mechanisms. Cell Res 2011;21:396-420.
33. Kadoch C, Hargreaves DC, Hodges C, Elias L, Ho L, et al. Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes
identifies extensive roles in human malignancy. Nat Genet 2013;45:592-601.
34. Dawson MA, Kouzarides T. Cancer epigenetics: from mechanism to therapy. Cell 2012;150:12-27.
35. Gao W, Li W, Xiao T, Liu XS, Kaelin WG Jr. Inactivation of the PBRM1 tumor suppressor gene amplifies the HIF-response in VHL -/- clear
cell renal carcinoma. Proc Natl Acad Sci USA 2017;114:1027-32.
36. Saxton RA, Sabatini DM. mTOR signaling in growth, metabolism, and disease. Cell 2017;169:361-71.
37. Brugarolas J, Lei K, Hurley RL, Manning BD, Reiling JH, et al. Regulation of mTOR function in response to hypoxia by REDD1 and the
TSC1/SC2 tumor suppressor complex. Genes Dev 2004;18:2893-904.
38. Robb V, Karbowniczek M, Szanto AJ, Henske EP. Activation of the mTOR signaling pathway in renal clear cell carcinoma. J Urol
2007;177:346-52.
39. Wei EY, Hsieh JJ. A river model to map convergent cancer evolution and guide therapy in RCC. Nat Rev Urol 2015;12:706-12.
40. Hsieh JJ, Chen D, Wang PI, Marker M, Redzematovic A, et al. Genomic biomarkers of a randomized trial comparing first-line everolimus
and sunitinib in patients with metastatic renal cell carcinoma. Eur Urol 2017;71:405-14.
41. Hsieh JJ, Chen DPW, Chen YB, Redzematovic A, Marker M. Identification of efficacy biomarkers in a large metastatic renal cell carcinoma
(mRCC) cohort through next generation sequencing (NGS): results from RECORD-3. J Clin Oncol 2015;33:abstr4509.
42. Voss MH, Hsieh JJ. Therapeutic guide for mTOuRing through the braided kidney cancer genomic river. Clin Cancer Res 2016;22:2320-2.
43. Kwiatkowski DJ, Choueiri TK, Fay AP, Rini BI, Thorner AR, et al. Muttions in TSC1, TSC2, and MTOR are associated with response to
rapalogs in patients with metastatic renal cell carcinoma. Clin Cancer Res 2016;22:2445-52.
44. Nargund AM, Ozmanbeyoglu HU, Cheng EH, Hsieh JJ. SWI/SNF tumor suppressor gene PBRM1/BAF180 in human clear cell kidney
cancer. Mol Cell Oncol 2017;4:e1342747.
45. Dalgliesh GL, Furge K, Greenman C, Chen L, Bignell G, et al. Systematic sequencing of renal carcinoma reveals inactivation of histone
modifying enzymes. Nature 2010;463:360-3.
46. Sun XJ, Wu J, Wei XY, Hu M, Wang L. Identification and characterization of a novel human histone H3 lysine 36-specific methyltransferase.
J Biol Chem 2005;280:35261-71.
47. Simon JM, Hacker KE, Singh D, Brannon AR, Parker JS. Variation in chromatin accessibility in human kidney cancer links H3K36
methyltransferase loss with widespread RNA processing defects. Genome Res 2014;24:241-50.
48. Sarakbi AW, Sasi W, Jiang WG, Roberts T, Newbold RF, et al. The mRNA expression of SETD2 in human breast cancer: correlation with
clinico-pathological parameters. BMC Cancer 2009;9:290.
49. Zhang J, ding L, Holmfeldt L, Wu G, Heatley SL, et al. The genetic basis of early T-cell precursor acute lymphoblastic leukemia. Nature
2012;481:157-63.
50. Xiang W, He J, Huang C, Chen L, Tao D, et al. miR-106b-5p targets tumor suppressor gene SETD2 to inactive its function in clear cell renal
cell carcinoma. Oncotarget 2015;6:4066-79.
51. Duns G, van-der-Berg E, van-Duivenbode I, Osinga J, Hollema H, et al. Histone methyltransferase gene SETD2 is a novel tumor suppressor
gene in clear cell renal carcinoma. Cancer Res 2010;70:4287-91.
52. Manley BJ, Zabor EC, Casuscelli J, Tennenbaum DM, Redzematovic A, et al. Integration of recurrent somatic mutations with clinical
outcomes: a pooled analysis of 1049 patients with clear cell renal cell carcinoma. Eur Urol Focus 2017;3:421-7.
53. Tennenbaum DM, Manley BJ, Zabor E, Becerra MF, Carlo MI, et al. Genomic alterations as predictors of survival among patients within a
combined cohort with clear cell renal cell carcinoma undergoing cytoreductive nephrectomy. Urol Oncol 2017;35:532.
54. Gerlinger M, Rowan AJ, Horswell S, Math M, Larkin J, et al. Intratumor heterogeneity and branched evolution revealed by multiregion
sequencing. N Engl J Med 2012;366:883-92.