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Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes
Open accessAbstract
Clear cell renal cell carcinoma (ccRCC) is the most common form of adult kidney cancer, characterized by the presence of inactivating mutations in the VHL gene in most cases, and by infrequent somatic mutations in known cancer genes. To determine further the genetics of ccRCC, we have sequenced 101 cases through 3,544 protein-coding genes. Here we report the identification of inactivating mutations in two genes encoding enzymes involved in histone modification-SETD2, a histone H3 lysine 36 methyltransferase, and JARID1C (also known as KDM5C), a histone H3 lysine 4 demethylase-as well as mutations in the histone H3 lysine 27 demethylase, UTX (KMD6A), that we recently reported. The results highlight the role of mutations in components of the chromatin modification machinery in human cancer. Furthermore, NF2 mutations were found in non-VHL mutated ccRCC, and several other probable cancer genes were identified. These results indicate that substantial genetic heterogeneity exists in a cancer type dominated by mutations in a single gene, and that systematic screens will be key to fully determining the somatic genetic architecture of cancer.
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“Interestingly, inactivating mutations and/or reduced expression of JmjC histone demethylases including JARID1C (Dalgliesh et al, 2010), UTX (van Haaften et al, 2009) and JHDM1B/FBXL10 (Frescas et al, 2007), occur in RCCs, multiple myeloma, glioblastoma multiforme and several other cancers.”
From The oncometabolite 2-hydroxyglutarate inhibits histone lysine demethylases (2011) · cites this paper as Dalgliesh et al, 2010
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“A number of 2-oxoglutarate-dependent enzymes that act on chromatin are themselves targets of inactivating mutations in cancer, including the UTX H3K27 demethylase (also called KDM6A), JARID1C H3K4 demethylase (KDM5C), and TET2, making them attractive candidates for pathogenically relevant inhibition by succinate, fumarate, and R-2HG (Abdel-Wahab et al., 2009; Dalgliesh et al., 2010; Tefferi et al”
From Influence of Metabolism on Epigenetics and Disease (2013) · cites this paper as Dalgliesh et al., 2010
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“SETD2 mutations have been detected in various cancers, including clear cell renal cell carcinoma (51, 52).”
Rabjerg, M., Bjerregaard, H., Halekoh, U., Jensen, B. L., Walter, S., & Marcussen, N. (2016) · Apmis · doi:10.1111/apm.12519 · Cited by 42
“Recently, mutations in BAP1, PBRM1 and later SETD2 were discovered in ccRCC by exome sequencing (8, 9).”
BackgroundInfluentialDelving into somatic variation in sporadic melanoma
Walia, V., Mu, E. W., Lin, J., & Samuels, Y. (2012) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2012.00976.x · Cited by 41
“ADAM Somatic mutations identified in ADAM family members suggest their role in tumorigenesis of distinct subtypes (Dalgliesh et al., 2010; Parsons et al., 2008; Pleasance et al., 2010; Sjoblom et al., 2006; TCGA, 2008).”
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Dietrich, D., Meller, S., Uhl, B., Ralla, B., Stephan, C., Jung, K., Ellinger, J., & Kristiansen, G. (2014) · Critical Reviews in Clinical Laboratory Sciences · doi:10.3109/10408363.2014.906130 · Cited by 41
The Roles of VHL-Dependent Ubiquitination in Signaling and Cancer
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Identification of mutations associated with acquired resistance to sunitinib in renal cell cancer
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Identification of Potential Serum Proteomic Biomarkers for Clear Cell Renal Cell Carcinoma
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“Most current biomarker studies have relied on DNA markers [15–17], gene expression [18,19] and microRNAs [20].”
BackgroundMethylation profiling and evaluation of demethylating therapy in renal cell carcinoma
Ricketts, C., Morris, M., Gentle, D., Shuib, S., Brown, M. D., Clarke, N., Wei, W.-B., Nathan, P., Latif, F., & Maher, E. (2013) · Clinical Epigenetics · doi:10.1186/1868-7083-5-16 · Cited by 38
“Thus, mutations in genes implicated in chromatin remodelling and modification such as PBRM1, SETD1, KDM6A/UTX and BAP1 have recently been shown to be frequently found in RCC [10-13] and more than 60 candidate TSGs have been reported to demonstrate promotor region methylation in RCC [2] (and references within).”
BackgroundSystematic discovery of genetic modulation by Jumonji histone demethylases in Drosophila
Shalaby, N. A., Sayed, R., Zhang, Q., Scoggin, S. O., Eliazer, S., Rothenfluh, A., & Buszczak, M. (2017) · Scientific Reports · doi:10.1038/s41598-017-05004-w · Cited by 37
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“However, the appearance of kinase-related genes in the molecular function analysis was not initially expected, because ccRCC renal tumors have not been reported to contain specific kinase-associated pathway activation induced by either gene mutation or focal amplification (33, 38, 39).”
Self-citationThe expanding role of BAP1 in clear cell renal cell carcinoma
Kapur, P., Rajaram, S., & Brugarolas, J. (2022) · Human Pathology · doi:10.1016/j.humpath.2022.07.022 · Cited by 41
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“However, so far no mutation in the HNF4A gene has been identified that may explain the downregulation of HNF4a in RCC [22,23].”
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Fontebasso, A. M., Gayden, T., Nikbakht, H., Neirinck, M., Papillon‐Cavanagh, S., Majewski, J., & Jabado, N. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1325-8 · Cited by 40
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ResultSETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis
Martinelli, G., Mancini, M., Benedittis, C. D., Rondoni, M., Papayannidis, C., Manfrini, M., Meggendorfer, M., Calogero, R., Guadagnuolo, V., Fontana, M. C., et al. (2017) · Leukemia · doi:10.1038/leu.2017.183 · Cited by 41
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“Two independent evaluation sets, consisting of 35 and 36 kidney cancer samples and 12 and 9 cancer-adjacent control samples from the same patients, respectively, were used to assess the generality of the predicted markers [23,24].”
MethodMutated genes, pathways and processes in tumours
Baudot, A., de la Torre, V., & Valencia, A. (2010) · EMBO Reports · doi:10.1038/embor.2010.133 · Cited by 39
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“…analyses have revealed that renal carcinogenesis involves inactivation of histone-modifying genes such as SETD2 (Dal- gliesh et al., 2010), KDM5C (Dalgliesh et al., 2010), UTX (van Haaften et al., 2009), and PBRM1 This is an open access article under the terms of the Creative Commons…”
BackgroundInfluentialNam, S. J., Lee, C., Park, J. H., & Moon, K. C. (2015) · Urologic Oncology Seminars and Original Investigations · doi:10.1016/j.urolonc.2015.01.010 · Cited by 38
“Recent studies have identified recurrent mutations in histone-modifying and chromatin-remodeling genes, including PBRM1 [7], BAP1 [12], SETD2, KDM6A, and JARID1c [13].”
BackgroundTechnology-specific error signatures in the 1000 Genomes Project data
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“This is true not only for the search for private or low-frequency meiotic mutations at disease gene loci but also for the quest for somatic variants in cancer genomes (Beroukhim et al. 2010; Bignell et al. 2010; Dalgliesh et al. 2010; Lee et al. 2010) and for therapeutic decision-making.”
BackgroundAltered expression of MLL methyltransferase family genes in breast cancer
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Renal cell carcinoma: translational aspects of metabolism and therapeutic consequences
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“The increased expression of majority of validated upregulated genes (n =5, except HIG2 and RNF149), correlated with the expression of VHL , HIF1A , and EPAS1, with highest correlation coefficient for FUT11 (0.71), EGLN3 (0.60), PFKP (0.58), and NDUFA4L2 (0.48), and lowest for PRDX4 (0.39), indirectly suggesting their…”
BackgroundInfluentialIntegrated analysis of recurrent properties of cancer genes to identify novel drivers
D’Antonio, M., & Ciccarelli, F. D. (2013) · Genome biology · doi:10.1186/gb-2013-14-5-r52 · Cited by 36
“The dataset of 10,681 genes with at least one somatic non-synonymous mutation in cancer was collected from 39 mutational screenings of cancer tissues [2,4-18,35-57] (Table 1, Additional file 2, Table S1).”
BackgroundMethodHow should clinicians address intratumour heterogeneity in clear cell renal cell carcinoma?
Soultati, A. S., Stares, M., Swanton, C., Larkin, J., & Turajlic, S. (2015) · Current Opinion in Urology · doi:10.1097/mou.0000000000000204 · Cited by 37
“In the last few years, four large-scale [12,13 && ,14,15], and several smaller next-generation sequencing studies [16,17] have highlighted other important genes and pathways.”
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The Emerging Role of Histone Demethylases in Renal Cell Carcinoma
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“Inactivating mutations of KDM5C were identified in 101 clear cell RCC (ccRCC) cases using massive parallel sequencing technologies (20).”
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“The histone H3 lysine 27 (H3K27me3) demethylase UTX (ubiquitously transcribed tetratricopeptide repeat gene on X chromosome; also known as KDM6A: lysine-specific demethylase 6A) was identified as a potential tumor suppressor since loss-of-function mutations were repeatedly found in patients with cancers of the bladder…”
BackgroundTazemetostat for Advanced Epithelioid Sarcoma: Current Status and Future Perspectives
Simeone, N., Frezza, A. M., Zaffaroni, N., & Stacchiotti, S. (2020) · Future Oncology · doi:10.2217/fon-2020-0781 · Cited by 39
Lampe, J. W., Alford, J. S., Boriack‐Sjodin, P. A., Brach, D., Cosmopoulos, K., Duncan, K. W., Eckley, S. T., Foley, M. A., Harvey, D. M., Motwani, V., et al. (2021) · ACS Medicinal Chemistry Letters · doi:10.1021/acsmedchemlett.1c00272 · Cited by 37
Epigenetic targets and drug discovery Part 2: Histone demethylation and DNA methylation
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“Extensive KDM6A mutations are present in some cells that are involved in multiple myeloma, esophageal squamous cell carcinoma and RCCs (van Haaften et al., 2009; Dalgliesh et al., 2010).”
BackgroundGermline and somatic DNA methylation and epigenetic regulation of KILLIN in renal cell carcinoma
Bennett, K. L., Campbell, R. A., Ganapathi, S. S., Zhou, M., Rini, B. I., Ganapathi, R. N., Neumann, H. P. H., & Eng, C. (2011) · Genes Chromosomes and Cancer · doi:10.1002/gcc.20887 · Cited by 37
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Spatial and temporal cancer evolution: causes and consequences of tumour diversity
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“Meanwhile, the mutations in SETD2 occurred in 3% to 12% of sporadic ccRCC tumors, majority of mutations contributing to loss of the protein product or function.(7,8,10) Admittedly, the mechanisms of diallelic SETD2 inactivation leading to ccRCC were still unclear.”
BackgroundSpurious transcription and its impact on cell function
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“The high mutation rate of PBRM1 in ccRCC has been confirmed by multiple studies, together with mutations in other genes such as BAP1, SETD2, KDM5C/JARID1C, PTEN and UTX (Dalgliesh et al., 2010; Guo et al., 2012; Peña-Llopis et al., 2012; Cancer Genome Atlas Research Network, 2013; Sato et al., 2013).”
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Diverse Functions of KDM5 in Cancer: Transcriptional Repressor or Activator?
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Epigenomic charting and functional annotation of risk loci in renal cell carcinoma
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Decreased ARID1A expression correlates with poor prognosis of clear cell renal cell carcinoma
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“In addition, investigating other SWI/SNF members or chromatin regulators, such as JARID1C, SETD2, UTX, and BAP1, which are mutated or down-regulated, will suggest a more precise mechanism for CCRCC pathogenesis or treatment [4,5,20,30].”
BackgroundExamining the impact of gene variants on histone lysine methylation
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“Interestingly, KDM5C mutations have also been reported in CCRCC [47].”
BackgroundInfluentialAxitinib in the Treatment of Metastatic Renal Cell Carcinoma
Ho, T. H., & Jonasch, E. W. (2011) · Future Oncology · doi:10.2217/fon.11.107 · Cited by 36
Becket, E., Chopra, S. S., Duymich, C. E., Lin, J. J., You, J. S., Pandiyan, K., Nichols, P. W., Siegmund, K. D., Charlet, J., Weisenberger, D. J., et al. (2016) · Cancer Research · doi:10.1158/0008-5472.can-15-2622 · Cited by 37
“Both genetic and DNA methylation aberrations have been described in ccRCC tumors (35,37).”
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Prognostic value of cross-omics screening for kidney clear cell renal cancer survival
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Molecular Genetics of Renal Cell Tumors: A Practical Diagnostic Approach
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Neoadjuvant pazopanib and molecular analysis of tissue response in renal cell carcinoma
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Frontiers in Bladder Cancer Genomic Research
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“In addition, mutations in the above genes have also been found in other malignant tumors such as ovarian cancer and renal cancer (41, 42).”
BackgroundThe Jumonji family: past, present and future of histone demethylases in cancer
Franci, G., Ciotta, A., & Altucci, L. (2014) · BioMolecular Concepts · doi:10.1515/bmc-2014-0010 · Cited by 37
Saeed, K., Ojamies, P., Pellinen, T. S., Eldfors, S., Turkki, R., Lundin, J. E., Järvinen, P., Nísen, H., Taari, K., af Hällström, T. M., et al. (2018) · International Journal of Cancer · doi:10.1002/ijc.31815 · Cited by 41
“Genes involved in histone modification and chromatin remodeling such as PBRM1, SETD2 and KDM5C are also often mutated in ccRCC.(7,8) Despite the presence of common and consistent driver mutations in ccRCC, the variability in the drug responsiveness from one patient to another remains a major challenge.”
BackgroundHillen, H., Candi, A., Vanderhoydonck, B., Kowalczyk, W., Sansores-García, L., Kesikiadou, E. C., Huffel, L. V., Spiessens, L., Nijs, M., Soons, E., et al. (2023) · Molecular Cancer Therapeutics · doi:10.1158/1535-7163.mct-22-0681 · Cited by 35
Self-citationMolecular analysis of primary and metastatic sites in patients with renal cell carcinoma
Gulati, S., Barata, P. C., Elliott, A., Bilen, M. A., Burgess, E. F., Choueiri, T. K., Darabi, S., Dawson, N. A., Gartrell, B. A., Hammers, H. J., et al. (2024) · Journal of Clinical Investigation · doi:10.1172/jci176230 · Cited by 35
“BAP-1 mutations, which have been associated with poor prognosis in ccRCC (34, 35), were observed in 10% of tumors in the overall cohort, consistent with prior studies (16, 36–38), and no differential expression was seen between the primary renal tumors versus sites of metastasis.”
ResultPotential of Anti‐Cancer Therapy Based on Anti‐miR‐155 Oligonucleotides in Glioma and Brain Tumours
Poltronieri, P., D’Urso, P. I., Mezzolla, V., & D’Urso, O. F. (2012) · Chemical Biology & Drug Design · doi:10.1111/cbdd.12002 · Cited by 35
The tumor suppressor Rb and its related Rbl2 genes are regulated by Utx histone demethylase
Terashima, M., Ishimura, A., Yoshida, M., Suzuki, Y., Sugano, S., & Suzuki, T. (2010) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2010.07.061 · Cited by 35
Discoveries, therapies and opportunities
Linehan, W. M., & Ricketts, C. J. (2014) · Nature Reviews Urology · doi:10.1038/nrurol.2014.262 · Cited by 35
Ramakrishnan, S., & Пили, Р. (2013) · The Cancer Journal · doi:10.1097/ppo.0b013e3182a09e07 · Cited by 35
Chromatin-regulating proteins as targets for cancer therapy
Oike, T., Ogiwara, H., Amornwichet, N., Nakano, T., & Kohno, T. (2014) · Journal of Radiation Research · doi:10.1093/jrr/rrt227 · Cited by 37
Minardi, D., Lucarini, G., Milanese, G., Primio, R. D., Montironi, R., & Muzzonigro, G. (2016) · Urologic Oncology Seminars and Original Investigations · doi:10.1016/j.urolonc.2016.03.006 · Cited by 35
“The BAP1 functions as a DUB enzyme that regulates multiple cellular pathways related to tumorigenesis [4,13,17].”
BackgroundIn, G. K., Poorman, K. A., Saul, M. E., O'Day, S. J., Farma, J. M., Olszanski, A. J., Gordon, M. S., Thomas, J. S., Eisenberg, B. L., Flaherty, L. E., et al. (2020) · Oncotarget · doi:10.18632/oncotarget.27686 · Cited by 38
“We noted higher rates of alterations in SETD2, which is involved in histone modification, and PBRM1, which encodes the BAF 180 subunit of the PBAF SWI/SNF chromatin remodeling complex [49, 50].”
BackgroundMerlin in organ size control and tumorigenesis: Hippo versus EGFR?Preprint
Yi, C., & Kissil, J. L. (2010) · Genes & Development · doi:10.1101/gad.1964810 · Cited by 35
Anderson, J. C., Willey, C. D., Mehta, A., Welaya, K. Y., Chen, D., Duarte, C. W., Ghatalia, P., Arafat, W. O., Madan, A., Sudarshan, S., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0139267 · Cited by 34
“[ 20 – 23] Recently, a genetic/epigenetic study implicated the Wnt/ β -catenin pathway in renal cell carcinogenesis.”
Drug Repurposing for Epigenetic Targets Guided by Computational Methods
Naveja, J. J., Dueñas‐González, A., & Medina‐Franco, J. L. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-802808-7.00012-5 · Cited by 37
JMJD3 promotes survival of diffuse large B-cell lymphoma subtypes via distinct mechanisms
Zhang, Y., Shen, L., Stupack, D. G., Bai, N., Xun, J., Ren, G., Han, J., Li, L., Luo, Y., Xiang, R., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.8836 · Cited by 35
Tracing Renal Cell Carcinomas back to the Nephron
Lindgren, D., Sjölund, J., & Axelson, H. (2018) · Trends in cancer · doi:10.1016/j.trecan.2018.05.003 · Cited by 40
Liao, L., Alicea‐Velázquez, N. L., Langbein, L. E., Niu, X., Cai, W., Cho, E., Zhang, M., Greer, C. B., Yan, Q., Cosgrove, M. S., et al. (2018) · Molecular Oncology · doi:10.1002/1878-0261.12434 · Cited by 34
“The high mutation rate of PBRM1 in ccRCC has been confirmed by multiple studies (Cancer Genome Atlas Research Network, 2013; Dalgliesh et al., 2010; Guo et al., 2012; Pena-Llopis et al., 2012; Sato et al., 2013).”
ResultMonomorphic Epitheliotropic Intestinal T-Cell Lymphoma in Asia Frequently Shows SETD2 Alterations
Tomita, S., Kikuti, Y. Y., Carreras, J., Sakai, R., Takata, K., Yoshino, T., Beà, S., Campo, E., Missiaglia, E., Bouilly, J., et al. (2020) · Cancers · doi:10.3390/cancers12123539 · Cited by 36
Peters, I., Eggers, H., Atschekzei, F., Hennenlotter, J., Waalkes, S., Tränkenschuh, W., Großhennig, A., Merseburger, A. S., Stenzl, A., Kuczyk, M. A., et al. (2012) · British Journal of Urology · doi:10.1111/j.1464-410x.2011.10862.x · Cited by 34
Molecular Pathogenesis of Ovarian Clear Cell Carcinoma
Gounaris, I., & Brenton, J. D. (2015) · Future Oncology · doi:10.2217/fon.15.45 · Cited by 34
Identification of actionable mutations in malignant pleural mesothelioma
Shukuya, T., Serizawa, M., Watanabe, M., Akamatsu, H., Abe, M., Imai, H., Tokito, T., Ono, A., Taira, T., Kenmotsu, H., et al. (2014) · Lung Cancer · doi:10.1016/j.lungcan.2014.08.004 · Cited by 34
Sonke, E., Verrydt, M., Postenka, C. O., Pardhan, S., Willie, C. J., Mazzola, C. R., Hammers, M. D., Pluth, M. D., Lobb, I., Power, N. E., et al. (2015) · Nitric Oxide · doi:10.1016/j.niox.2015.06.001 · Cited by 34
Ma, Q. C., Ennis, C. A., & Aparicio, S. A. J. R. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2012.01.008 · Cited by 35
The Epigenetics of Renal Cell Tumors: from Biology to Biomarkers
Henrique, R., Luís, A. S., & Jerónimo, C. (2012) · Frontiers in Genetics · doi:10.3389/fgene.2012.00094 · Cited by 33
“Specifically, inactivating mutations were described for SETD2 (H3K36 methyltransferase), JARID1C/KDM5C (H3K4 demethylase), UTX /KMD6A (H3K27 demethylase), and MLL2 (an H3K4 methyltransferase; van Haaften et al., 2009; Dalgliesh et al., 2010).”
Cabozantinib for the Management of Metastatic Clear Cell Renal Cell Carcinoma
Vecchio, S. J. D., & Ellis, R. J. (2018) · Journal of Kidney Cancer and VHL · doi:10.15586/jkcvhl.2018.109 · Cited by 33
“Although VHL mutations are present in an estimated 70% of clear cell cancers, genetic heterogeneity is a hallmark of progressive disease with several other genes responsible for disease advancement and resistance to therapy (7, 8).”
BackgroundMacklin, P. S., Yamamoto, A., Browning, L., Hofer, M., Adam, J., & Pugh, C. W. (2020) · The Journal of Pathology · doi:10.1002/path.5402 · Cited by 33
“number of CCRCC harbour HIF1A inactivating mutations [61,71].”
BackgroundTaylor‐Papadimitriou, J., & Burchell, J. (2022) · Cells · doi:10.3390/cells11071113 · Cited by 34
Potential Role of Genetic Markers in the Management of Kidney Cancer
Junker, K., Ficarra, V., Kwon, E. D., Leibovich, B. C., Thompson, R. H., & Oosterwijk, E. (2012) · European Urology · doi:10.1016/j.eururo.2012.09.040 · Cited by 33
“The exome sequencing studies also revealed the existence of hypoxic and nonhypoxic tumours [31].”
BackgroundMethodInfluentialContext-specific regulation of cancer epigenomes by histone and transcription factor methylation
Sarris, M. E., Nikolaou, K., & Talianidis, I. (2013) · Oncogene · doi:10.1038/onc.2013.87 · Cited by 33
Role of the KEAP1-NRF2 Axis in Renal Cell Carcinoma
Clerici, S., & Boletta, A. (2020) · Cancers · doi:10.3390/cancers12113458 · Cited by 36
“On the other hand, despite the fact that amplification of KRAS was described in RCC, as reported for c-MYC [101], mutations in RAS and BRAF are extremely rare in kidney tumors (almost 1%) [102,103,104].”
BackgroundNoncytotoxic Differentiation Treatment of Renal Cell Cancer
Negrotto, S., Hu, Z., Alcazar, O., Ng, K. P., Triozzi, P. L., Lindner, D. J., Rini, B. I., & Saunthararajah, Y. (2011) · Cancer Research · doi:10.1158/0008-5472.can-10-2422 · Cited by 32
“genetic activation marks are a feature of RCC (44).”
Histone methyltransferase Setd2 is critical for the proliferation and differentiation of myoblasts
Yi, X., Tao, Y., Lin, X., Dai, Y., Yang, T., Yue, X., Jiang, X., Li, X., Jiang, D., Andrade, K. C., et al. (2017) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2017.01.012 · Cited by 35
Somatic alterations and dysregulation of epigenetic modifiers in cancers
Aumann, S., & Abdel-Wahab, O. I. (2014) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2014.08.004 · Cited by 31
Beleut, M., Zimmermann, P., Baudis, M., Bruni, N., Bühlmann, P., Laule, O., Luu, V.-D., Gruissem, W., Schraml, P., & Moch, H. (2012) · BMC Cancer · doi:10.1186/1471-2407-12-310 · Cited by 29
“In the search of critical genes, molecular studies identified several onco- and tumorsupressor gene candidates that are mutated and/or located within frequently gained and lost chromosomal regions of RCC [4-9].”
BackgroundSystematic Analysis of Drug Vulnerabilities Conferred by Tumor Suppressor Loss
Ding, H., Zhao, J., Zhang, Y. L., Yu, J., Liu, M., Li, X., Xu, L., Lin, M., Liu, C., He, Z., et al. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.05.043 · Cited by 28
Self-citationNew Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations
Fagundes, G. F. C., Petenuci, J., Lourenço, D. M., Trarbach, E. B., Pereira, M. A. A., D’Eur, J. E. C., Hoff, A. O., Lerário, A. M., Zerbini, M. C. N., Siqueira, S. A. C., et al. (2019) · Journal of the Endocrine Society · doi:10.1210/js.2019-00225 · Cited by 31
“Mutations in this codon represent approximately 43% of mutations in American and Canadian families with type 2 VHL disease [15, 22, 23].”
BackgroundRole of succinate dehydrogenase deficiency and oncometabolites in gastrointestinal stromal tumors
Zhao, Y., Feng, F., Guo, Q., Wang, Y., & Zhao, R. (2020) · World Journal of Gastroenterology · doi:10.3748/wjg.v26.i34.5074 · Cited by 35
Renal cancer: Oxygen meets metabolism
Haase, V. H. (2012) · Experimental Cell Research · doi:10.1016/j.yexcr.2012.02.026 · Cited by 34
“Furthermore, HIF-1α truncating mutations have been identified in several clinical samples of ccRCC by a genome wide sequencing screen, which could indicate that a shift towards HIF-2 may provide a growth advantage under certain conditions [48, 77].”
Backgroundvon-Hippel Lindau and Hypoxia-Inducible Factor at the Center of Renal Cell Carcinoma Biology
Shirole, N. H., & Kaelin, W. G. (2023) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2023.04.011 · Cited by 34
Correa, A. F., Kalashnikova, E. V., Wu, H.-T., Winters, R. M., Balcioglu, M., Sudhaman, S., Connolly, D. C., Gong, Y., Uzzo, R. G., Sethi, H., et al. (2024) · The Oncologist · doi:10.1093/oncolo/oyae180 · Cited by 30
Tough, D. F., Lewis, H. D., Rioja, I., Lindon, M. J., & Prinjha, R. K. (2014) · British Journal of Pharmacology · doi:10.1111/bph.12848 · Cited by 30
“Inactivating mutations in other KDMs such as KDM5A have also been linked to cancer, supporting the notion that these proteins can have a tumour suppressor function (Dalgliesh et al., 2010).”
BackgroundNew Agents and New Targets for Renal Cell Carcinoma
Philips, G. K., & Atkins, M. B. (2014) · American Society of Clinical Oncology Educational Book · doi:10.14694/edbook_am.2014.34.e222 · Cited by 33
Metadata
- Authors
- Dalgliesh, G. L., Furge, K., Greenman, C., Chen, L., Bignell, G., Butler, A., Davies, H., Edkins, S., Hardy, C., Latimer, C., Teague, J., Andrews, J., Barthorpe, S., Beare, D., Buck, G., Campbell, P. J., Forbes, S., Jia, M., Jones, D., Knott, H., Kok, C. Y., Lau, K. W., Leroy, C., Lin, M.-L., McBride, D. J., Maddison, M., Maguire, S., McLay, K., Menzies, A., Mironenko, T., Mulderrig, L., Mudie, L., O’Meara, S., Pleasance, E., Rajasingham, A., Shepherd, R., Smith, R., Stebbings, L., Stephens, P., Tang, G., Tarpey, P. S., Turrell, K., Dykema, K. J., Khoo, S. K., Petillo, D., Wondergem, B., Anema, J., Kahnoski, R. J., Teh, B. T., Stratton, M. R., & Futreal, P. A.
- Affiliations
- Wellcome Sanger Institute (GB)
- Van Andel Institute (US)
- Spectrum Health (US)
- Institute of Cancer Research (GB)
- Corresponding author
- Teh, Bin Tean
- Stratton, Michael R.
- Futreal, P. Andrew
- ORCID
- Dalgliesh, Gillian L.
- Greenman, Chris
- Chen, Lina
- Davies, Helen
- Edkins, Sarah
- Latimer, Calli
- Teague, Jon
- Barthorpe, Syd
- Buck, Gemma
- Campbell, Peter J.
- Jia, Mingming
- Jones, David
- Lau, King Wai
- Lin, Meng-Lay
- McBride, David J.
- Menzies, Andrew
- Mironenko, Tatiana
- Pleasance, Erin
- Shepherd, Rebecca
- Tarpey, Patrick S.
- Khoo, Sok Kean
- Petillo, David
- Kahnoski, Richard J.
- Teh, Bin Tean
- Stratton, Michael R.
- Futreal, P. Andrew
- Venue
- Nature
- Published
- 2010-01
- Volume
- 463
- Issue
- 7279
- Pages
- 360-363
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC2820242
- OpenAlex
- W2079212177
- Cited by
- 1,173
- References
- 28
- Citations by year
- 2026: 20 · 2025: 26 · 2024: 33 · 2023: 43 · 2022: 40 · 2021: 58 · 2020: 63 · 2019: 54 · 2018: 66 · 2017: 65 · 2016: 91 · 2015: 85 · 2014: 119 · 2013: 125 · 2012: 114
- FWCI
- 109.36
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- UEA Digital Repository (University of East Anglia) (submittedVersion)
- Funders
- Wellcome Trust (077012/Z/05/Z, 082359, 077012, 088340, 093867)
- Topics
- Health Sciences › Medicine › Oncology › Renal cell carcinoma treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Keywords
- clear cell renal cell carcinoma, somatic mutations, histone-modifying enzymes, SETD2, JARID1C, KDM6A, neurofibromatosis type 2, VHL, chromatin modification, histone H3 lysine 36 methylation, histone H3 lysine 4 demethylation, tumor suppressor, cancer gene identification
- MeSH terms
- Carcinoma, Renal Cell, Chromatin, Histones, Humans, Kidney Neoplasms, Mutation, Nuclear Proteins, Oxidoreductases, N-Demethylating, Histone-Lysine N-Methyltransferase, Cell Hypoxia, Gene Expression Regulation, Neoplastic, Genes, Neurofibromatosis 2, Sequence Analysis, DNA, Histone Demethylases
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