BAP1 loss defines a new class of renal cell carcinoma (original) (raw)
Siegel, R., Ward, E., Brawley, O. & Jemal, A. Cancer statistics, 2011: the impact of eliminating socioeconomic and racial disparities on premature cancer deaths. CA Cancer J. Clin.61, 212–236 (2011). Article Google Scholar
Baldewijns, M.M. et al. Genetics and epigenetics of renal cell cancer. Biochim. Biophys. Acta1785, 133–155 (2008). CASPubMed Google Scholar
Brugarolas, J. Renal-cell carcinoma—molecular pathways and therapies. N. Engl. J. Med.356, 185–187 (2007). ArticleCAS Google Scholar
Latif, F. et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science260, 1317–1320 (1993). ArticleCAS Google Scholar
Gnarra, J.R. et al. Mutations of the VHL tumour suppressor gene in renal carcinoma. Nat. Genet.7, 85–90 (1994). ArticleCAS Google Scholar
Nickerson, M.L. et al. Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors. Clin. Cancer Res.14, 4726–4734 (2008). ArticleCAS Google Scholar
Beroukhim, R. et al. Patterns of gene expression and copy-number alterations in von-hippel lindau disease-associated and sporadic clear cell carcinoma of the kidney. Cancer Res.69, 4674–4681 (2009). ArticleCAS Google Scholar
Chen, M. et al. Genome-wide profiling of chromosomal alterations in renal cell carcinoma using high-density single nucleotide polymorphism arrays. Int. J. Cancer125, 2342–2348 (2009). ArticleCAS Google Scholar
Varela, I. et al. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature469, 539–542 (2011). ArticleCAS Google Scholar
Dalgliesh, G.L. et al. Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature463, 360–363 (2010). ArticleCAS Google Scholar
van Haaften, G. et al. Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. Nat. Genet.41, 521–523 (2009). ArticleCAS Google Scholar
Fuhrman, S.A., Lasky, L.C. & Limas, C. Prognostic significance of morphologic parameters in renal cell carcinoma. Am. J. Surg. Pathol.6, 655–663 (1982). ArticleCAS Google Scholar
Bretheau, D. et al. Prognostic value of nuclear grade of renal cell carcinoma. Cancer76, 2543–2549 (1995). ArticleCAS Google Scholar
Ficarra, V. et al. Prognostic and therapeutic impact of the histopathologic definition of parenchymal epithelial renal tumors. Eur. Urol.58, 655–668 (2010). Article Google Scholar
Pantuck, A.J. et al. Prognostic relevance of the mTOR pathway in renal cell carcinoma: implications for molecular patient selection for targeted therapy. Cancer109, 2257–2267 (2007). ArticleCAS Google Scholar
Sabatini, D.M. mTOR and cancer: insights into a complex relationship. Nat. Rev. Cancer6, 729–734 (2006). ArticleCAS Google Scholar
Gerlinger, M. et al. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N. Engl. J. Med.366, 883–892 (2012). ArticleCAS Google Scholar
Kucejova, B. et al. Interplay between pVHL and mTORC1 pathways in clear-cell renal cell carcinoma. Mol. Cancer Res.9, 1255–1265 (2011). ArticleCAS Google Scholar
Brugarolas, J. Research translation and personalized medicine. in Renal Cell Carcinoma (eds. Figlin, R.A., Rathmell, W.K. & Rini, B.I.) 161–191 (Springer New York, 2012).
Hahn, S.A. et al. Allelotype of pancreatic adenocarcinoma using xenograft enrichment. Cancer Res.55, 4670–4675 (1995). CASPubMed Google Scholar
Sivanand, S. et al. A validated tumorgraft model reveals activity of dovitinib against renal cell carcinoma. Sci. Transl. Med.4, 137ra75 (2012). Article Google Scholar
Lee, S.T. et al. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N. Engl. J. Med.330, 529–534 (1994). ArticleCAS Google Scholar
Suzuki, T. et al. Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. J. Invest. Dermatol.120, 781–783 (2003). ArticleCAS Google Scholar
Gasparre, G., Romeo, G., Rugolo, M. & Porcelli, A.M. Learning from oncocytic tumors: why choose inefficient mitochondria? Biochim. Biophys. Acta1807, 633–642 (2011). ArticleCAS Google Scholar
Jensen, D.E. et al. BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene16, 1097–1112 (1998). ArticleCAS Google Scholar
Ventii, K.H. et al. BRCA1-associated protein–1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization. Cancer Res.68, 6953–6962 (2008). ArticleCAS Google Scholar
Eletr, Z.M. & Wilkinson, K.D. An emerging model for BAP1's role in regulating cell cycle progression. Cell Biochem. Biophys.60, 3–11 (2011). ArticleCAS Google Scholar
Harbour, J.W. et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science330, 1410–1413 (2010). ArticleCAS Google Scholar
Wiesner, T. et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat. Genet.43, 1018–1021 (2011). ArticleCAS Google Scholar
Bott, M. et al. The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma. Nat. Genet.43, 668–672 (2011). ArticleCAS Google Scholar
Misaghi, S. et al. Association of C-terminal ubiquitin hydrolase BRCA1-associated protein 1 with cell cycle regulator host cell factor 1. Mol. Cell. Biol.29, 2181–2192 (2009). ArticleCAS Google Scholar
Nishikawa, H. et al. BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity. Cancer Res.69, 111–119 (2009). ArticleCAS Google Scholar
Machida, Y.J., Machida, Y., Vashisht, A.A., Wohlschlegel, J.A. & Dutta, A. The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1. J. Biol. Chem.284, 34179–34188 (2009). ArticleCAS Google Scholar
Scheuermann, J.C. et al. Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB. Nature465, 243–247 (2010). ArticleCAS Google Scholar
Yu, H. et al. The ubiquitin carboxyl hydrolase BAP1 forms a ternary complex with YY1 and HCF-1 and is a critical regulator of gene expression. Mol. Cell. Biol.30, 5071–5085 (2010). ArticleCAS Google Scholar
Kristie, T.M., Liang, Y. & Vogel, J.L. Control of α-herpesvirus IE gene expression by HCF-1 coupled chromatin modification activities. Biochim. Biophys. Acta1799, 257–265 (2010). ArticleCAS Google Scholar
Knez, J., Piluso, D., Bilan, P. & Capone, J.P. Host cell factor–1 and E2F4 interact via multiple determinants in each protein. Mol. Cell. Biochem.288, 79–90 (2006). ArticleCAS Google Scholar
Tyagi, S., Chabes, A.L., Wysocka, J. & Herr, W. E2F activation of S phase promoters via association with HCF-1 and the MLL family of histone H3K4 methyltransferases. Mol. Cell27, 107–119 (2007). ArticleCAS Google Scholar
Wysocka, J., Myers, M.P., Laherty, C.D., Eisenman, R.N. & Herr, W. Human Sin3 deacetylase and trithorax-related Set1/Ash2 histone H3–K4 methyltransferase are tethered together selectively by the cell-proliferation factor HCF-1. Genes Dev.17, 896–911 (2003). ArticleCAS Google Scholar
Yokoyama, A. et al. Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression. Mol. Cell. Biol.24, 5639–5649 (2004). ArticleCAS Google Scholar
Narayanan, A., Ruyechan, W.T. & Kristie, T.M. The coactivator host cell factor–1 mediates Set1 and MLL1 H3K4 trimethylation at herpesvirus immediate early promoters for initiation of infection. Proc. Natl. Acad. Sci. USA104, 10835–10840 (2007). ArticleCAS Google Scholar
Liang, Y., Vogel, J.L., Narayanan, A., Peng, H. & Kristie, T.M. Inhibition of the histone demethylase LSD1 blocks α-herpesvirus lytic replication and reactivation from latency. Nat. Med.15, 1312–1317 (2009). ArticleCAS Google Scholar
Smith, E.R. et al. A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16. Mol. Cell. Biol.25, 9175–9188 (2005). ArticleCAS Google Scholar
Stokes, M.P. et al. Profiling of UV-induced ATM/ATR signaling pathways. Proc. Natl. Acad. Sci. USA104, 19855–19860 (2007). ArticleCAS Google Scholar
Matsuoka, S. et al. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science316, 1160–1166 (2007). ArticleCAS Google Scholar
Kaelin, W. Jr. Molecular biology of clear cell renal carcinoma. in Renal Cell Carcinoma (eds. Figlin, R.A., Rathmell, W.K. & Rini, B.I.) 27–47 (Springer New York, 2012).
Xu, X. et al. Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor. Cell148, 886–895 (2012). ArticleCAS Google Scholar
Chapman-Fredricks, J.R. et al. Adult renal cell carcinoma with rhabdoid morphology represents a neoplastic dedifferentiation analogous to sarcomatoid carcinoma. Ann. Diagn. Pathol.15, 333–337 (2011). Article Google Scholar
Gökden, N. et al. Renal cell carcinoma with rhabdoid features. Am. J. Surg. Pathol.24, 1329–1338 (2000). Article Google Scholar
Abdel-Rahman, M.H. et al. Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J. Med. Genet.48, 856–859 (2011). ArticleCAS Google Scholar
Testa, J.R. et al. Germline BAP1 mutations predispose to malignant mesothelioma. Nat. Genet.43, 1022–1025 (2011). ArticleCAS Google Scholar
Wysocka, J., Reilly, P.T. & Herr, W. Loss of HCF-1-chromatin association precedes temperature-induced growth arrest of tsBN67 cells. Mol. Cell. Biol.21, 3820–3829 (2001). ArticleCAS Google Scholar
Guo, G. et al. Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. Nat. Genet.44, 17–19 (2012). ArticleCAS Google Scholar
Bentley, D.R. et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature456, 53–59 (2008). ArticleCAS Google Scholar
Olshen, A.B., Venkatraman, E.S., Lucito, R. & Wigler, M. Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics5, 557–572 (2004). Article Google Scholar
Peña-Llopis, S. et al. Regulation of TFEB and V-ATPases by mTORC1. EMBO J.30, 3242–3258 (2011). Article Google Scholar
Benjamini, Y. & Hochberg, Y. Controlling the false discovery rate—a practical and powerful approach to multiple testing. J. R. Stat. Soc., B57, 289–300 (1995). Google Scholar
Steiger, J.H. Tests for comparing elements of a correlation matrix. Psychol. Bull.87, 245–251 (1980). Article Google Scholar