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Volumn 15, Issue 9, 2015, Pages 1201-1210

BAP1, PBRM1 and SETD2 in clear-cell renal cell carcinoma: Molecular diagnostics and possible targets for personalized therapies

Author keywords

BRCA1 associated protein 1; clear cell renal cell carcinoma; molecular diagnostics; personalized therapies; Polybromo 1; SETD2

Indexed keywords

BAP1 PROTEIN; BRCA1 PROTEIN; DEUBIQUITINASE; HISTONE METHYLTRANSFERASE; PBRM1 PROTEIN; PROTEIN; SETD2 PROTEIN; UNCLASSIFIED DRUG; BAP1 PROTEIN, HUMAN; HISTONE LYSINE METHYLTRANSFERASE; NUCLEAR PROTEIN; PBRM1 PROTEIN, HUMAN; SET2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; TUMOR SUPPRESSOR PROTEIN; UBIQUITIN THIOLESTERASE;

EID: 84940486711     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/14737159.2015.1068122     Document Type: Review
Times cited : (87)

References (69)
  • 1
    • 37349080670 scopus 로고    scopus 로고
    • Bevacizumab plus interferon alfa-2a for treatment of metastatic renal cell carcinoma: A randomised, double-blind phase III trial
    • Escudier B, Pluzanska A, Koralewski P, et al. Bevacizumab plus interferon alfa-2a for treatment of metastatic renal cell carcinoma: a randomised, double-blind phase III trial. Lancet 2007;370:2103-11
    • (2007) Lancet , vol.370 , pp. 2103-2111
    • Escudier, B.1    Pluzanska, A.2    Koralewski, P.3
  • 2
    • 56749161699 scopus 로고    scopus 로고
    • Bevacizumab plus interferon alfa compared with interferon alfa monotherapy in patients with metastatic renal cell carcinoma: CALGB 90206
    • Rini BI, Halabi S, Rosenberg JE, et al. Bevacizumab plus interferon alfa compared with interferon alfa monotherapy in patients with metastatic renal cell carcinoma: CALGB 90206. J Clin Oncol 2008;26: 5422-8
    • (2008) J Clin Oncol , vol.26 , pp. 5422-5428
    • Rini, B.I.1    Halabi, S.2    Rosenberg, J.E.3
  • 3
    • 33846148701 scopus 로고    scopus 로고
    • Sorafenib in advanced clear-cell renal-cell carcinoma
    • Escudier B, Eisen T, Stadler WM, et al. Sorafenib in advanced clear-cell renal-cell carcinoma. N Engl J Med 2007;356:125-34
    • (2007) N Engl J Med , vol.356 , pp. 125-134
    • Escudier, B.1    Eisen, T.2    Stadler, W.M.3
  • 4
    • 33846181370 scopus 로고    scopus 로고
    • Sunitinib versus interferon alfa in metastatic renal-cell carcinoma
    • Motzer RJ, Hutson TE, Tomczak P, et al. Sunitinib versus interferon alfa in metastatic renal-cell carcinoma. N Engl J Med 2007;356:115-24
    • (2007) N Engl J Med , vol.356 , pp. 115-124
    • Motzer, R.J.1    Hutson, T.E.2    Tomczak, P.3
  • 5
    • 77949890945 scopus 로고    scopus 로고
    • Pazopanib in locally advanced or metastatic renal cell carcinoma: Results of a randomized phase III trial
    • Sternberg CN, Davis ID, Mardiak J, et al. Pazopanib in locally advanced or metastatic renal cell carcinoma: results of a randomized phase III trial. J Clin Oncol 2010;28: 1061-8
    • (2010) J Clin Oncol , vol.28 , pp. 1061-1068
    • Sternberg, C.N.1    Davis, I.D.2    Mardiak, J.3
  • 6
    • 82755183572 scopus 로고    scopus 로고
    • Comparative effectiveness of axitinib versus sorafenib in advanced renal cell carcinoma (AXIS): A randomised phase 3 trial
    • Rini BI, Escudier B, Tomczak P, et al. Comparative effectiveness of axitinib versus sorafenib in advanced renal cell carcinoma (AXIS): a randomised phase 3 trial. Lancet 2011;378:1931-9
    • (2011) Lancet , vol.378 , pp. 1931-1939
    • Rini, B.I.1    Escudier, B.2    Tomczak, P.3
  • 7
    • 34249779568 scopus 로고    scopus 로고
    • Temsirolimus, interferon alfa, or both for advanced renal-cell carcinoma
    • Hudes G, Carducci M, Tomczak P, et al. Temsirolimus, interferon alfa, or both for advanced renal-cell carcinoma. N Engl J Med 2007;356:2271-81
    • (2007) N Engl J Med , vol.356 , pp. 2271-2281
    • Hudes, G.1    Carducci, M.2    Tomczak, P.3
  • 8
    • 48649107474 scopus 로고    scopus 로고
    • Efficacy of everolimus in advanced renal cell carcinoma: A double-blind, randomised, placebo-controlled phase III trial
    • Motzer RJ, Escudier B, Oudard S, et al. Efficacy of everolimus in advanced renal cell carcinoma: a double-blind, randomised, placebo-controlled phase III trial. Lancet 2008;372:449-56
    • (2008) Lancet , vol.372 , pp. 449-456
    • Motzer, R.J.1    Escudier, B.2    Oudard, S.3
  • 9
    • 84888295105 scopus 로고    scopus 로고
    • Targeted therapies and complete responses in first line treatment of metastatic renal cell carcinoma
    • Iacovelli R, Alesini D, Palazzo A, et al. Targeted therapies and complete responses in first line treatment of metastatic renal cell carcinoma. A meta-analysis of published trials. Cancer Treat Rev 2014;40:271-5
    • (2014) A Meta-analysis of Published Trials. Cancer Treat Rev , vol.40 , pp. 271-275
    • Iacovelli, R.1    Alesini, D.2    Palazzo, A.3
  • 10
    • 84905403670 scopus 로고    scopus 로고
    • Molecular genetics of clear-cell renal cell carcinoma
    • Brugarolas J. Molecular genetics of clear-cell renal cell carcinoma. J Clin Oncol 2014;32: 1968-76
    • (2014) J Clin Oncol , vol.32 , pp. 1968-1976
    • Brugarolas, J.1
  • 11
    • 40249100323 scopus 로고    scopus 로고
    • VHL loss actuates a HIF-independent senescence programme mediated by Rb and p400
    • Young AP, Schlisio S, Minamishima YA, et al. VHL loss actuates a HIF-independent senescence programme mediated by Rb and p400. Nat Cell Biol 2008;10:361-9
    • (2008) Nat Cell Biol , vol.10 , pp. 361-369
    • Young, A.P.1    Schlisio, S.2    Minamishima, Y.A.3
  • 12
    • 84862988411 scopus 로고    scopus 로고
    • BAP1 loss defines a new class of renal cell carcinoma
    • Pena-Llopis S, Vega-Rubin-de-Celis S, Liao A, et al. BAP1 loss defines a new class of renal cell carcinoma. Nat Genet 2012;44: 751-9
    • (2012) Nat Genet , vol.44 , pp. 751-759
    • Pena-Llopis, S.1    Vega-Rubin-De-Celis, S.2    Liao, A.3
  • 13
    • 84879466482 scopus 로고    scopus 로고
    • Adverse outcomes in clear cell renal cell carcinoma with mutations of 3p21 epigenetic regulators BAP1 and SETD2: A report by MSKCC and the KIRC TCGA research network
    • Hakimi AA, Ostrovnaya I, Reva B, et al. Adverse outcomes in clear cell renal cell carcinoma with mutations of 3p21 epigenetic regulators BAP1 and SETD2: a report by MSKCC and the KIRC TCGA research network. Clin Cancer Res 2013;19:3259-67
    • (2013) Clin Cancer Res , vol.19 , pp. 3259-3267
    • Hakimi, A.A.1    Ostrovnaya, I.2    Reva, B.3
  • 14
    • 84873081430 scopus 로고    scopus 로고
    • Effects on survival of BAP1 and PBRM1 mutations in sporadic clear-cell renal-cell carcinoma: A retrospective analysis with independent validation
    • Kapur P, Pena-Llopis S, Christie A, 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
    • (2013) Lancet Oncol , vol.14 , pp. 159-167
    • Kapur, P.1    Pena-Llopis, S.2    Christie, A.3
  • 15
    • 58249095937 scopus 로고    scopus 로고
    • BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity
    • Nishikawa H, Wu W, Koike A, et al. BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity. Cancer Res 2009;69:111-19
    • (2009) Cancer Res , vol.69 , pp. 111-119
    • Nishikawa, H.1    Wu, W.2    Koike, A.3
  • 16
    • 0037122004 scopus 로고    scopus 로고
    • Activation of the E3 ligase function of the BRCA1/BARD1 complex by polyubiquitin chains
    • Mallery DL, Vandenberg CJ, Hiom K. Activation of the E3 ligase function of the BRCA1/BARD1 complex by polyubiquitin chains. EMBO J 2002;21:6755-62
    • (2002) EMBO J , vol.21 , pp. 6755-6762
    • Mallery, D.L.1    Vandenberg, C.J.2    Hiom, K.3
  • 17
    • 84915822435 scopus 로고    scopus 로고
    • Bap1 is essential for kidney function and cooperates with Vhl in renal tumorigenesis
    • Wang SS, Gu YF, Wolff N, et al. Bap1 is essential for kidney function and cooperates with Vhl in renal tumorigenesis. Proc Natl Acad Sci USA 2014;111:16538-43
    • (2014) Proc Natl Acad Sci USA , vol.111 , pp. 16538-16543
    • Wang, S.S.1    Gu, Y.F.2    Wolff, N.3
  • 18
    • 78649700287 scopus 로고    scopus 로고
    • Frequent mutation of BAP1 in metastasizing uveal melanomas
    • Harbour JW, Onken MD, Roberson ED, et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 2010;330:1410-13
    • (2010) Science , vol.330 , pp. 1410-1413
    • Harbour, J.W.1    Onken, M.D.2    Roberson, E.D.3
  • 19
    • 84856023489 scopus 로고    scopus 로고
    • Histone deacetylase inhibitors induce growth arrest and differentiation in uveal melanoma
    • Landreville S, Agapova OA, Matatall KA, et al. Histone deacetylase inhibitors induce growth arrest and differentiation in uveal melanoma. Clin Cancer Res 2012;18: 408-16
    • (2012) Clin Cancer Res , vol.18 , pp. 408-416
    • Landreville, S.1    Agapova, O.A.2    Matatall, K.A.3
  • 20
    • 84921629564 scopus 로고    scopus 로고
    • BAP1 regulates cell cycle progression through E2F1 target genes and mediates transcriptional silencing via H2A monoubiquitination in uveal melanoma cells
    • Pan H, Jia R, Zhang L, et al. BAP1 regulates cell cycle progression through E2F1 target genes and mediates transcriptional silencing via H2A monoubiquitination in uveal melanoma cells. Int J Biochem Cell Biol 2015;60:176-84
    • (2015) Int J Biochem Cell Biol , vol.60 , pp. 176-184
    • Pan, H.1    Jia, R.2    Zhang, L.3
  • 21
    • 84925442599 scopus 로고    scopus 로고
    • BAP1 Has a Survival Role in Cutaneous Melanoma
    • Kumar R, Taylor M, Miao B, et al. BAP1 Has a Survival Role in Cutaneous Melanoma. J Invest Dermatol 2015;135: 1089-97
    • (2015) J Invest Dermatol , vol.135 , pp. 1089-1097
    • Kumar, R.1    Taylor, M.2    Miao, B.3
  • 22
    • 79959694149 scopus 로고    scopus 로고
    • The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma
    • Bott M, Brevet M, Taylor BS, 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
    • (2011) Nat Genet , vol.43 , pp. 668-672
    • Bott, M.1    Brevet, M.2    Taylor, B.S.3
  • 23
    • 84928486573 scopus 로고    scopus 로고
    • Molecular pathways in renal cell carcinoma: Recent advances in genetics and molecular biology
    • Su D, Singer EA, Srinivasan R. Molecular pathways in renal cell carcinoma: recent advances in genetics and molecular biology. Curr Opin Oncol 2015;27:217-23
    • (2015) Curr Opin Oncol , vol.27 , pp. 217-223
    • Su, D.1    Singer, E.A.2    Srinivasan, R.3
  • 24
    • 40949111565 scopus 로고    scopus 로고
    • BAF180 is a critical regulator of p21 induction and a tumor suppressor mutated in breast cancer
    • Xia W, Nagase S, Montia AG, et al. BAF180 is a critical regulator of p21 induction and a tumor suppressor mutated in breast cancer. Cancer Res 2008;68:1667-74
    • (2008) Cancer Res , vol.68 , pp. 1667-1674
    • Xia, W.1    Nagase, S.2    Montia, A.G.3
  • 25
    • 77956271441 scopus 로고    scopus 로고
    • Polybromo-associated BRG1-associated factor components BRD7 and BAF180 are critical regulators of p53 required for induction of replicative senescence
    • Burrows AE, Smogorzewska A, Elledge SJ. Polybromo-associated BRG1-associated factor components BRD7 and BAF180 are critical regulators of p53 required for induction of replicative senescence. Proc Natl Acad Sci USA 2010;107:14280-5
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 14280-14285
    • Burrows, A.E.1    Smogorzewska, A.2    Elledge, S.J.3
  • 26
    • 84919451538 scopus 로고    scopus 로고
    • Requirement for PBAF in transcriptional repression and repair at DNA breaks in actively transcribed regions of chromatin
    • Kakarougkas A, Ismail A, Chambers AL, et al. Requirement for PBAF in transcriptional repression and repair at DNA breaks in actively transcribed regions of chromatin. Mol Cell 2014;55:723-32
    • (2014) Mol Cell , vol.55 , pp. 723-732
    • Kakarougkas, A.1    Ismail, A.2    Chambers, A.L.3
  • 27
    • 84897050302 scopus 로고    scopus 로고
    • BAF180 promotes cohesion and prevents genome instability and aneuploidy
    • Brownlee PM, Chambers AL, Cloney R, et al. BAF180 promotes cohesion and prevents genome instability and aneuploidy. Cell Rep 2014;6:973-81
    • (2014) Cell Rep , vol.6 , pp. 973-981
    • Brownlee, P.M.1    Chambers, A.L.2    Cloney, R.3
  • 28
    • 79251635938 scopus 로고    scopus 로고
    • Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma
    • Varela I, Tarpey P, Raine K, et al. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature 2011;469:539-42
    • (2011) Nature , vol.469 , pp. 539-542
    • Varela, I.1    Tarpey, P.2    Raine, K.3
  • 29
    • 84857129204 scopus 로고    scopus 로고
    • Convergent structural alterations define SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer
    • Shain AH, Giacomini CP, Matsukuma K, et al. Convergent structural alterations define SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer. Proc Natl Acad Sci USA 2012;109:E252-9
    • (2012) Proc Natl Acad Sci USA , vol.109 , pp. E252-E259
    • Shain, A.H.1    Giacomini, C.P.2    Matsukuma, K.3
  • 30
    • 70049111751 scopus 로고    scopus 로고
    • The mRNA expression of SETD2 in human breast cancer: Correlation with clinico-pathological parameters
    • Al Sarakbi W, Sasi W, Jiang WG, et al. The mRNA expression of SETD2 in human breast cancer: correlation with clinico-pathological parameters. BMC Cancer 2009;9:290
    • (2009) BMC Cancer , vol.9 , pp. 290
    • Al Sarakbi, W.1    Sasi, W.2    Jiang, W.G.3
  • 31
    • 84862907593 scopus 로고    scopus 로고
    • The genetic basis of early T-cell precursor acute lymphoblastic leukaemia
    • Zhang J, Ding L, Holmfeldt L, et al. The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature 2012;481: 157-63
    • (2012) Nature , vol.481 , pp. 157-163
    • Zhang, J.1    Ding, L.2    Holmfeldt, L.3
  • 32
    • 84879890360 scopus 로고    scopus 로고
    • Comprehensive molecular characterization of clear cell renal cell carcinoma
    • Creighton CJ, Morgan M, Gunaratne PH, et al. Comprehensive molecular characterization of clear cell renal cell carcinoma. Nature 2013;499:43-9
    • (2013) Nature , vol.499 , pp. 43-49
    • Creighton, C.J.1    Morgan, M.2    Gunaratne, P.H.3
  • 33
    • 84893664978 scopus 로고    scopus 로고
    • Variation in chromatin accessibility in human kidney cancer links H3K36 methyltransferase loss with widespread RNA processing defects
    • Simon JM, Hacker KE, Singh D, et al. Variation in chromatin accessibility in human kidney cancer links H3K36 methyltransferase loss with widespread RNA processing defects. Genome Res 2014;24:241-50
    • (2014) Genome Res , vol.24 , pp. 241-250
    • Simon, J.M.1    Hacker, K.E.2    Singh, D.3
  • 34
    • 84876943255 scopus 로고    scopus 로고
    • The histone mark H3K36me3 regulates human DNA mismatch repair through its interaction with MutSalpha
    • Li F, Mao G, Tong D, et al. The histone mark H3K36me3 regulates human DNA mismatch repair through its interaction with MutSalpha. Cell 2013;153: 590-600
    • (2013) Cell , vol.153 , pp. 590-600
    • Li, F.1    Mao, G.2    Tong, D.3
  • 35
    • 84899849011 scopus 로고    scopus 로고
    • SETD2 is required for DNA double-strand break repair and activation of the p53-mediated checkpoint
    • Carvalho S, Vitor AC, Sridhara SC, et al. SETD2 is required for DNA double-strand break repair and activation of the p53-mediated checkpoint. Elife 2014;3: e02482
    • (2014) Elife , vol.3 , pp. e02482
    • Carvalho, S.1    Vitor, A.C.2    Sridhara, S.C.3
  • 36
    • 84903451450 scopus 로고    scopus 로고
    • SETD2-dependent histone H3K36 trimethylation is required for homologous recombination repair and genome stability
    • Pfister SX, Ahrabi S, Zalmas LP, et al. SETD2-dependent histone H3K36 trimethylation is required for homologous recombination repair and genome stability. Cell Rep 2014;7:2006-18
    • (2014) Cell Rep , vol.7 , pp. 2006-2018
    • Pfister, S.X.1    Ahrabi, S.2    Zalmas, L.P.3
  • 37
    • 84861217853 scopus 로고    scopus 로고
    • Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11
    • Raponi M, Douglas AG, Tammaro C, et al. Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11. PLoS One 2012;7:e37255
    • (2012) PLoS One , vol.7 , pp. e37255
    • Raponi, M.1    Douglas, A.G.2    Tammaro, C.3
  • 38
    • 84857687714 scopus 로고    scopus 로고
    • SpliceAid 2: A database of human splicing factors expression data and RNA target motifs
    • Piva F, Giulietti M, Burini AB, Principato G. SpliceAid 2: a database of human splicing factors expression data and RNA target motifs. Hum Mutat 2012;33: 81-5
    • (2012) Hum Mutat , vol.33 , pp. 81-85
    • Piva, F.1    Giulietti, M.2    Burini, A.B.3    Principato, G.4
  • 39
    • 84876037266 scopus 로고    scopus 로고
    • Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma
    • Hakimi AA, Chen YB, Wren J, et al. Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma. Eur Urol 2013;63:848-54
    • (2013) Eur Urol , vol.63 , pp. 848-854
    • Hakimi, A.A.1    Chen, Y.B.2    Wren, J.3
  • 40
    • 84869487977 scopus 로고    scopus 로고
    • Loss of PBRM1 expression is associated with renal cell carcinoma progression
    • Pawlowski R, Muhl SM, Sulser T, et al. Loss of PBRM1 expression is associated with renal cell carcinoma progression. Int J Cancer 2013;132:E11-17
    • (2013) Int J Cancer , vol.132 , pp. E11-17
    • Pawlowski, R.1    Muhl, S.M.2    Sulser, T.3
  • 41
    • 84922590453 scopus 로고    scopus 로고
    • Loss of PBRM1 and BAP1 expression is less common in non-clear cell renal cell carcinoma than in clear cell renal cell carcinoma
    • Ho TH, Kapur P, Joseph RW, et al. Loss of PBRM1 and BAP1 expression is less common in non-clear cell renal cell carcinoma than in clear cell renal cell carcinoma. Urol Oncol 2015;33:23 e9-14
    • (2015) Urol Oncol , vol.33 , pp. 23e914
    • Ho, T.H.1    Kapur, P.2    Joseph, R.W.3
  • 42
    • 85028129789 scopus 로고    scopus 로고
    • Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes
    • Durinck S, Stawiski EW, Pavia-Jimenez A, et al. Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. Nat Genet 2015;47: 13-21
    • (2015) Nat Genet , vol.47 , pp. 13-21
    • Durinck, S.1    Stawiski, E.W.2    Pavia-Jimenez, A.3
  • 43
    • 84895876130 scopus 로고    scopus 로고
    • Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing
    • Gerlinger M, Horswell S, Larkin J, et al. Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing. Nat Genet 2014;46:225-33
    • (2014) Nat Genet , vol.46 , pp. 225-233
    • Gerlinger, M.1    Horswell, S.2    Larkin, J.3
  • 44
    • 84880898004 scopus 로고    scopus 로고
    • Cooperation and antagonism among cancer genes: The renal cancer paradigm
    • Pena-Llopis S, Christie A, Xie XJ, Brugarolas J. Cooperation and antagonism among cancer genes: the renal cancer paradigm. Cancer Res 2013;73:4173-9
    • (2013) Cancer Res , vol.73 , pp. 4173-4179
    • Pena-Llopis, S.1    Christie, A.2    Xie, X.J.3    Brugarolas, J.4
  • 45
    • 84885735554 scopus 로고    scopus 로고
    • Mutational landscape and significance across 12 major cancer types
    • Kandoth C, McLellan MD, Vandin F, et al. Mutational landscape and significance across 12 major cancer types. Nature 2013;502: 333-9
    • (2013) Nature , vol.502 , pp. 333-339
    • Kandoth, C.1    McLellan, M.D.2    Vandin, F.3
  • 46
    • 84878846119 scopus 로고    scopus 로고
    • Germline BAP1 mutations predispose to renal cell carcinomas
    • Popova T, Hebert L, Jacquemin V, et al. Germline BAP1 mutations predispose to renal cell carcinomas. Am J Hum Genet 2013;92:974-80
    • (2013) Am J Hum Genet , vol.92 , pp. 974-980
    • Popova, T.1    Hebert, L.2    Jacquemin, V.3
  • 47
    • 84884497841 scopus 로고    scopus 로고
    • A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma
    • Farley MN, Schmidt LS, Mester JL, et al. A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma. Mol Cancer Res 2013;11: 1061-71
    • (2013) Mol Cancer Res , vol.11 , pp. 1061-1071
    • Farley, M.N.1    Schmidt, L.S.2    Mester, J.L.3
  • 48
    • 84856023369 scopus 로고    scopus 로고
    • Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
    • Abdel-Rahman MH, Pilarski R, Cebulla CM, et al. Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J Med Genet 2011;48:856-9
    • (2011) J Med Genet , vol.48 , pp. 856-859
    • Abdel-Rahman, M.H.1    Pilarski, R.2    Cebulla, C.M.3
  • 49
    • 80053385701 scopus 로고    scopus 로고
    • Germline BAP1 mutations predispose to malignant mesothelioma
    • Testa JR, Cheung M, Pei J, et al. Germline BAP1 mutations predispose to malignant mesothelioma. Nat Genet 2011;43:1022-5
    • (2011) Nat Genet , vol.43 , pp. 1022-1025
    • Testa, J.R.1    Cheung, M.2    Pei, J.3
  • 50
    • 84860142904 scopus 로고    scopus 로고
    • Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families
    • Njauw CN, Kim I, Piris A, et al. Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. PLoS ONE 2012;7:e35295
    • (2012) PLoS ONE , vol.7 , pp. e35295
    • Njauw, C.N.1    Kim, I.2    Piris, A.3
  • 51
    • 84874372159 scopus 로고    scopus 로고
    • Prevalence of germline BAP1 mutation in a population-based sample of uveal melanoma cases
    • Aoude LG, Vajdic CM, Kricker A, et al. Prevalence of germline BAP1 mutation in a population-based sample of uveal melanoma cases. Pigment Cell Melanoma Res 2013;26: 278-9
    • (2013) Pigment Cell Melanoma Res , vol.26 , pp. 278-279
    • Aoude, L.G.1    Vajdic, C.M.2    Kricker, A.3
  • 52
    • 84922520667 scopus 로고    scopus 로고
    • Germline BAP1 mutations predispose also to multiple basal cell carcinomas
    • de la Fouchardiere A, Cabaret O, Savin L, et al. Germline BAP1 mutations predispose also to multiple basal cell carcinomas. Clin Genet 2014
    • (2014) Clin Genet
    • De La Fouchardiere, A.1    Cabaret, O.2    Savin, L.3
  • 53
    • 84922337420 scopus 로고    scopus 로고
    • Inference on germline BAP1 mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high-risk area
    • Betti M, Casalone E, Ferrante D, et al. Inference on germline BAP1 mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high-risk area. Genes Chromosomes Cancer 2015;54:51-62
    • (2015) Genes Chromosomes Cancer , vol.54 , pp. 51-62
    • Betti, M.1    Casalone, E.2    Ferrante, D.3
  • 55
    • 84877343113 scopus 로고    scopus 로고
    • Aberrant promoter hypermethylation of PBRM1, BAP1, SETD2, KDM6A and other chromatin-modifying genes is absent or rare in clear cell RCC
    • Ibragimova I, Maradeo ME, Dulaimi E, Cairns P. Aberrant promoter hypermethylation of PBRM1, BAP1, SETD2, KDM6A and other chromatin-modifying genes is absent or rare in clear cell RCC. Epigenetics 2013;8: 486-93
    • (2013) Epigenetics , vol.8 , pp. 486-493
    • Ibragimova, I.1    Maradeo, M.E.2    Dulaimi, E.3    Cairns, P.4
  • 56
    • 84921754876 scopus 로고    scopus 로고
    • Alterations in chromatin accessibility and DNA methylation in clear cell renal cell carcinoma
    • Buck MJ, Raaijmakers LM, Ramakrishnan S, et al. Alterations in chromatin accessibility and DNA methylation in clear cell renal cell carcinoma. Oncogene 2014;33:4961-5
    • (2014) Oncogene , vol.33 , pp. 4961-4965
    • Buck, M.J.1    Raaijmakers, L.M.2    Ramakrishnan, S.3
  • 57
    • 84899421896 scopus 로고    scopus 로고
    • Loss of BAP1 protein expression is an independent marker of poor prognosis in patients with low-risk clear cell renal cell carcinoma
    • Joseph RW, Kapur P, Serie DJ, et al. Loss of BAP1 protein expression is an independent marker of poor prognosis in patients with low-risk clear cell renal cell carcinoma. Cancer 2014;120:1059-67
    • (2014) Cancer , vol.120 , pp. 1059-1067
    • Joseph, R.W.1    Kapur, P.2    Serie, D.J.3
  • 58
    • 84893482700 scopus 로고    scopus 로고
    • Radiogenomics of clear cell renal cell carcinoma: Associations between CT imaging features and mutations
    • Karlo CA, Di Paolo PL, Chaim J, et al. Radiogenomics of clear cell renal cell carcinoma: associations between CT imaging features and mutations. Radiology 2014;270:464-71
    • (2014) Radiology , vol.270 , pp. 464-471
    • Karlo, C.A.1    Di Paolo, P.L.2    Chaim, J.3
  • 59
    • 84888640837 scopus 로고    scopus 로고
    • BAP1 is phosphorylated at serine 592 in S-phase following DNA damage
    • Eletr ZM, Yin L, Wilkinson KD. BAP1 is phosphorylated at serine 592 in S-phase following DNA damage. FEBS Lett 2013;587:3906-11
    • (2013) FEBS Lett , vol.587 , pp. 3906-3911
    • Eletr, Z.M.1    Yin, L.2    Wilkinson, K.D.3
  • 60
    • 84891912266 scopus 로고    scopus 로고
    • Tumor suppressor and deubiquitinase BAP1 promotes DNA double-strand break repair
    • Yu H, Pak H, Hammond-Martel I, et al. Tumor suppressor and deubiquitinase BAP1 promotes DNA double-strand break repair. Proc Natl Acad Sci USA 2014;111: 285-90
    • (2014) Proc Natl Acad Sci USA , vol.111 , pp. 285-290
    • Yu, H.1    Pak, H.2    Hammond-Martel, I.3
  • 61
    • 79960197509 scopus 로고    scopus 로고
    • A phase II trial of panobinostat, a histone deacetylase inhibitor, in the treatment of patients with refractory metastatic renal cell carcinoma
    • Hainsworth JD, Infante JR, Spigel DR, et al. A phase II trial of panobinostat, a histone deacetylase inhibitor, in the treatment of patients with refractory metastatic renal cell carcinoma. Cancer Invest 2011;29:451-5
    • (2011) Cancer Invest , vol.29 , pp. 451-455
    • Hainsworth, J.D.1    Infante, J.R.2    Spigel, D.R.3
  • 62
    • 33749049594 scopus 로고    scopus 로고
    • A phase II study of depsipeptide in refractory metastatic renal cell cancer
    • Stadler WM, Margolin K, Ferber S, et al. A phase II study of depsipeptide in refractory metastatic renal cell cancer. Clin Genitourin Cancer 2006;5:57-60
    • (2006) Clin Genitourin Cancer , vol.5 , pp. 57-60
    • Stadler, W.M.1    Margolin, K.2    Ferber, S.3
  • 63
    • 84940493308 scopus 로고    scopus 로고
    • Clinical trials.gov, A service of the U.S. National Institutes of Health, Vorinostat in Treating Patients With Kidney Cancer
    • Clinical trials.gov, A service of the U.S. National Institutes of Health, Vorinostat in Treating Patients With Kidney Cancer. Available from: https://clinicaltrials.gov/ct2/show/NCT00278395
  • 64
    • 84940491868 scopus 로고    scopus 로고
    • Clinical trials.gov, A service of the U.S. National Institutes of Health, MS-275 in Treating Patients With Advanced Solid Tumors or Lymphoma
    • Clinical trials.gov, A service of the U.S. National Institutes of Health, MS-275 in Treating Patients With Advanced Solid Tumors or Lymphoma. Available from: https://clinicaltrials.gov/ct2/show/NCT00020579
  • 65
    • 84940512646 scopus 로고    scopus 로고
    • Clinical trials.gov, A service of the U.S. National Institutes of Health, Study of Oral PXD101 in Patients With Advanced Solid Tumors or Lymphoma
    • Clinical trials.gov, A service of the U.S. National Institutes of Health, Study of Oral PXD101 in Patients With Advanced Solid Tumors or Lymphoma. Available from: https://clinicaltrials.gov/ct2/show/NCT00413075
  • 66
    • 84940474418 scopus 로고    scopus 로고
    • Clinical trials.gov, A service of the U.S. National Institutes of Health, Entinostat in Combination With Aldesleukin in Treating Patients With Metastatic Kidney Cancer
    • Clinical trials.gov, A service of the U.S. National Institutes of Health, Entinostat in Combination With Aldesleukin in Treating Patients With Metastatic Kidney Cancer. Available from: https://clinicaltrials.gov/ct2/show/NCT01038778
  • 67
    • 84940498091 scopus 로고    scopus 로고
    • Clinical trials.gov, A service of the U.S. National Institutes of Health, Trial of Olaparib in Combination With AZD5363 (ComPAKT)
    • Clinical trials.gov, A service of the U.S. National Institutes of Health, Trial of Olaparib in Combination With AZD5363 (ComPAKT). Available from: https://clinicaltrials.gov/ct2/show/NCT02338622
  • 68
    • 84655176646 scopus 로고    scopus 로고
    • Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma
    • Guo G, Gui Y, Gao S, et al. Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. Nat Genet 2012;44:17-19
    • (2012) Nat Genet , vol.44 , pp. 17-19
    • Guo, G.1    Gui, Y.2    Gao, S.3
  • 69
    • 84880967722 scopus 로고    scopus 로고
    • Integrated molecular analysis of clear-cell renal cell carcinoma
    • Sato Y, Yoshizato T, Shiraishi Y, et al. Integrated molecular analysis of clear-cell renal cell carcinoma. Nat Genet 2013;45: 860-7
    • (2013) Nat Genet , vol.45 , pp. 860-867
    • Sato, Y.1    Yoshizato, T.2    Shiraishi, Y.3


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