The DOI matches its Crossref record; 47 of the 51 references it cites were found in a registry or an index.
An Integrated Genomic Analysis of Human Glioblastoma Multiforme
Open accessAbstract
Glioblastoma multiforme (GBM) is the most common and lethal type of brain cancer. To identify the genetic alterations in GBMs, we sequenced 20,661 protein coding genes, determined the presence of amplifications and deletions using high-density oligonucleotide arrays, and performed gene expression analyses using next-generation sequencing technologies in 22 human tumor samples. This comprehensive analysis led to the discovery of a variety of genes that were not known to be altered in GBMs. Most notably, we found recurrent mutations in the active site of isocitrate dehydrogenase 1 ( IDH1 ) in 12% of GBM patients. Mutations in IDH1 occurred in a large fraction of young patients and in most patients with secondary GBMs and were associated with an increase in overall survival. These studies demonstrate the value of unbiased genomic analyses in the characterization of human brain cancer and identify a potentially useful genetic alteration for the classification and targeted therapy of GBMs.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Gain-of-function IDH mutations are initiating events that define major clinical and prognostic classes of gliomas1,2.”
From Insulator dysfunction and oncogene activation in IDH mutant gliomas (2016) · cites this paper as [1]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Genetic and molecular markers of malignant tumors have been integrated into clinical practice 5,6 , with the US Food and Drug Administration (FDA) providing approval for several companion diagnostic devices and nucleic acid-based tests 7,8 .”
From Multimodal biomedical AI (2022) · cites this paper as [6]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“PI3K signaling is hyperactivated in nearly 90% of GBMs, commonly as a consequence of EGFR amplification and activating mutation (EGFRvIII), and loss of the PTEN tumor suppressor protein, a negative regulator of PI3K signaling (6–8).”
From An LXR Agonist Promotes Glioblastoma Cell Death through Inhibition of an EGFR/AKT/SREBP-1/LDLR–Dependent Pathway (2011) · cites this paper as [7]
Experimental — accuracy not yet measuredIn the citing paper
“The IDH genes (IDH1 and IDH2) encode isocitrate dehydrogenases, and mutations in these genes are among the most frequent found in diffuse gliomas118,119.”
From Transcription factors as readers and effectors of DNA methylation (2016) · cites this paper as [118]
In the citing paper
“Moreover, in the context of DNA damage, MDM2 localizes to the nucleus and modulates DNA repair in a p53-independent manner by binding to and inactivating Nbs1 in the MRE11/Rad50/NBS1 complex.1,8,27”
From Combination therapy in a xenograft model of glioblastoma: Enhancement of the antitumor activity of temozolomide by an MDM2 antagonist (2017) · cites this paper as [27]
In the citing paper
“Cancer genome sequencing efforts yielded an unexpected discovery in 2008 with the identification of somatic mutations in a metabolic enzyme, the TCA cycle enzyme IDH1, in glioblastoma multiforme (GBM) (77).”
From Fueling Immunity: Insights into Metabolism and Lymphocyte Function (2013) · cites this paper as [77]
In the citing paper
“Genomic sequencing of gliomas (Parsons et al., 2008; Yan et al., 2009) and acute myelogenous leukemia (Mardis et al., 2009) identified mutations in two isoforms of NADP+-dependent isocitrate dehydrogenase (IDH1 and IDH2).”
From Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us? (2012) · cites this paper as Parsons et al., 2008
In the citing paper
“the presence of IDH1/2 mutations in gliomas is associated with both lower histological grade and a slower rate of disease progression”
From Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us? (2012) · cites this paper as Parsons et al., 2008
In the citing paper
“the concentrations at which it accumulates under pathogenic conditions suggests HIF-1α stabilisation and impaired collagen biogenesis may contribute to tumorigenicity126-130.”
From Coupling Krebs cycle metabolites to signalling in immunity and cancer (2018) · cites this paper as [130]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
UCSF Chimera—A visualization system for exploratory research and analysis
Pettersen, E. F., Goddard, T. D., Huang, C. C., Couch, G. S., Greenblatt, D. M., Meng, E. C., & Ferrin, T. E. (2004) · Journal of Computational Chemistry · doi:10.1002/jcc.20084 · Cited by 46,047
Radiotherapy Plus Concomitant and Adjuvant Temozolomide for Glioblastoma
Stupp, R., Mason, W. P., van den Bent, M. J., Weller, M., Fisher, B., Taphoorn, M. J. B., Belanger, K., Brandes, A. A., Marosi, C., Bogdahn, U., et al. (2005) · New England Journal of Medicine · doi:10.1056/nejmoa043330 · Cited by 21,807
The 2007 WHO Classification of Tumours of the Central Nervous System
Louis, D. N., Ohgaki, H., Wiestler, O. D., Cavenee, W. K., Burger, P. C., Jouvet, A., Scheithauer, B. W., & Kleihues, P. (2007) · Acta Neuropathologica · doi:10.1007/s00401-007-0243-4 · Cited by 15,675
Mapping and quantifying mammalian transcriptomes by RNA-Seq
Mortazavi, A., Williams, B. A., McCue, K., Schaeffer, L., & Wold, B. (2008) · Nature Methods · doi:10.1038/nmeth.1226 · Cited by 13,696
SIFT: predicting amino acid changes that affect protein function
Ng, P. C. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg509 · Cited by 6,601
Li, J., Yen, C., Liaw, D., Podsypanina, K., Bose, S., Wang, S. I., Puc, J., Miliaresis, C., Rodgers, L., McCombie, R., et al. (1997) · Science · doi:10.1126/science.275.5308.1943 · Cited by 4,785
Core Signaling Pathways in Human Pancreatic Cancers Revealed by Global Genomic Analyses
Jones, S., Zhang, X., Parsons, D. W., Lin, J. C.-H., Leary, R. J., Angenendt, P., Mankoo, P., Carter, H., Kamiyama, H., Jimeno, A., et al. (2008) · Science · doi:10.1126/science.1164368 · Cited by 3,969
Self-citationSerial Analysis of Gene Expression
Velculescu, V. E., Zhang, L., Vogelstein, B., & Kinzler, K. W. (1995) · Science · doi:10.1126/science.270.5235.484 · Cited by 3,713
Self-citationHigh Frequency of Mutations of the PIK3CA Gene in Human Cancers
Samuels, Y., Wang, Z., Bardelli, A., Silliman, N., Ptak, J., Szabo, S., Yan, H., Gazdar, A. F., Powell, S. M., Riggins, G. J., et al. (2004) · Science · doi:10.1126/science.1096502 · Cited by 3,448
Self-citationThe Consensus Coding Sequences of Human Breast and Colorectal Cancers
Sjöblom, T., Jones, S., Wood, L. D., Parsons, D. W., Lin, J., Barber, T. D., Mandelker, D. L., Leary, R. J., Ptak, J., Silliman, N., et al. (2006) · Science · doi:10.1126/science.1133427 · Cited by 3,161
Self-citation
Research works printed but not linked: 7
- H. Scherer, Am. J. Cancer40, 159 (1940).
- R. J. Learyet al. Proc. Natl. Acad. Sci. U.S.A. in press.
- K. Uekiet al., Cancer Res.56, 150 (1996).
- L. Frederick, X. Y. Wang, G. Eley, C. D. James, Cancer Res.60, 1383 (2000).
- G. Thielet al., Anticancer Res.15, 2495 (1995).
- S. Ekins, Y. Nikolsky, A. Bugrim, E. Kirillov, T. Nikolskaya, Methods Mol. Biol.356, 319 (2007).
- Contact information for the authors who directed the major components of this project is as follows: H. Yan G. J. Riggins (clinical and sample coordination) yan00002@mc.duke.edu griggin1@jhmi.edu; D. D. Bigner (pathological and clinical review) bigne001@mc.duke. edu; R. Karchin (bioinformatic analysis) karchin@jhu.edu; N. Papadopoulos (gene expression analysis) npapado1@jhmi.edu; G. Parmigiani (statistical analysis) gp@jhu.edu; B. Vogelstein V. E. Velculescu K. W. Kinzler (sequencing and copy number analysis) bertvog@gmail.com velculescu@jhmi.edu kinzlke@jhmi.edu. We thank N. Silliman J. Ptak L. Dobbyn and M. Whalen for assistance with PCR amplification; D. Lister L. J. Ehinger D. L. Satterfield J. D. Funkhouser and P. Killela for assistance with DNA purification; T. Sjöblom for assistance with database management; the Agencourt sequencing team for assistance with automated sequencing; and C.-S. Liu and the SoftGenetics team for their assistance with mutation detection analyses. This project was carried out under the auspices of the Ludwig Brain Tumor Initiative and was supported by the Virginia and D. K. Ludwig Fund for Cancer Research NIH grants CA121113 NS052507 CA43460 CA57345 CA62924 CA09547 5P50-NS-20023 CA108786 and CA11898 the Pew Charitable Trusts the Pediatric Brain Tumor Foundation Institute the Hirschhorn Foundation Alex's Lemonade Stand Foundation the American Brain Tumor Association the American Society of Clinical Oncology the Brain Tumor Research Fund and Beckman Coulter Corporation. Under separate licensing agreements between the Johns Hopkins University and Genzyme Beckman Coulter and Exact Sciences Corporations B.V. V.E.V. and K.W.K. are entitled to a share of royalties received by the university on sales of products related to research described in this paper. These authors and the university own Genzyme and Exact Sciences stock which is subject to certain restrictions under university policy. The terms of these arrangements are managed by the Johns Hopkins University in accordance with its conflict-of-interest policies.
Cited by
Sorted by citations
Understanding the Warburg Effect: The Metabolic Requirements of Cell Proliferation
Vander Heiden, M. G., Cantley, L. C., & Thompson, C. B. (2009) · Science · doi:10.1126/science.1160809 · Cited by 16,197
Vogelstein, B., Papadopoulos, N., Velculescu, V. E., Zhou, S., Diaz, L. A., & Kinzler, K. W. (2013) · Science · doi:10.1126/science.1235122 · Cited by 7,863
Self-citationIntratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing
Gerlinger, M., Rowan, A. J., Horswell, S., Larkin, J., Endesfelder, D., Gronroos, E., Martinez, P., Matthews, N., Stewart, A., Tarpey, P., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1113205 · Cited by 7,774
The emerging hallmarks of cancer metabolism
Pavlova, N. N., & Thompson, C. B. (2016) · Cell Metabolism · doi:10.1016/j.cmet.2015.12.006 · Cited by 5,926
IDH1 and IDH2 Mutations in Gliomas
Yan, H., Parsons, D. W., Jin, G., McLendon, R., Rasheed, B. A., Yuan, W., Kos, I., Batinic-Haberle, I., Jones, S., Riggins, G. J., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0808710 · Cited by 5,847
Self-citationMutational heterogeneity in cancer and the search for new cancer-associated genes
Lawrence, M. S., Stojanov, P., Polak, P., Kryukov, G. V., Cibulskis, K., Sivachenko, A., Carter, S. L., Stewart, C., Mermel, C. H., Roberts, S. A., et al. (2013) · Nature · doi:10.1038/nature12213 · Cited by 5,461
Single-cell RNA-seq highlights intratumoral heterogeneity in primary glioblastoma
Patel, A. P., Tirosh, I., Trombetta, J. J., Shalek, A. K., Gillespie, S. M., Wakimoto, H., Cahill, D. P., Nahed, B. V., Curry, W. T., Martuza, R. L., et al. (2014) · Science · doi:10.1126/science.1254257 · Cited by 5,063
Regulation of cancer cell metabolism
Cairns, R. A., Harris, I. S., & Mak, T. W. (2011) · Nature Reviews Cancer · doi:10.1038/nrc2981 · Cited by 4,744
Mutational landscape and significance across 12 major cancer types
Kandoth, C., McLellan, M. D., Vandin, F., Ye, K., Niu, B., Lu, C., Xie, M., Zhang, Q., McMichael, J. F., Wyczalkowski, M. A., et al. (2013) · Nature · doi:10.1038/nature12634 · Cited by 4,419
Wen, P. Y., & Kesari, S. (2008) · New England Journal of Medicine · doi:10.1056/nejmra0708126 · Cited by 3,511
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate
Dang, L., White, D. W., Gross, S., Bennett, B. D., Bittinger, M. A., Driggers, E. M., Fantin, V. R., Jang, H. G., Jin, S., Keenan, M. C., et al. (2009) · Nature · doi:10.1038/nature08617 · Cited by 4,154
Core Signaling Pathways in Human Pancreatic Cancers Revealed by Global Genomic Analyses
Jones, S., Zhang, X., Parsons, D. W., Lin, J. C.-H., Leary, R. J., Angenendt, P., Mankoo, P., Carter, H., Kamiyama, H., Jimeno, A., et al. (2008) · Science · doi:10.1126/science.1164368 · Cited by 3,969
Self-citationIntegrative Genomic Profiling of Human Prostate Cancer
Taylor, B. S., Schultz, N. D., Hieronymus, H., Gopalan, A., Xiao, Y., Carver, B. S., Arora, V. K., Kaushik, P., Cerami, E. G., Reva, B. A., et al. (2010) · Cancer Cell · doi:10.1016/j.ccr.2010.05.026 · Cited by 3,713
Modulation of oxidative stress as an anticancer strategy
Gorrini, C., Harris, I. S., & Mak, T. W. (2013) · Nature Reviews Drug Discovery · doi:10.1038/nrd4002 · Cited by 3,579
Stratton, M. R., Campbell, P. J., & Futreal, P. A. (2009) · Nature · doi:10.1038/nature07943 · Cited by 3,625
Otto Warburg's contributions to current concepts of cancer metabolism
Koppenol, W. H., Bounds, P. L., & Dang, C. V. (2011) · Nature Reviews Cancer · doi:10.1038/nrc3038 · Cited by 3,427
Metabolic Reprogramming: A Cancer Hallmark Even Warburg Did Not Anticipate
Ward, P. S., & Thompson, C. B. (2012) · Cancer Cell · doi:10.1016/j.ccr.2012.02.014 · Cited by 3,233
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas
The Cancer Genome Atlas Research Network (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1402121 · Cited by 3,148
Xu, W., Yang, H., Liu, Y., Yang, Y., Wang, P., Kim, S.-H., Ito, S., Yang, C., Wang, P., Xiao, M.-T., et al. (2011) · Cancer Cell · doi:10.1016/j.ccr.2010.12.014 · Cited by 2,875
Figueroa, M. E., Abdel-Wahab, O., Lu, C., Ward, P. S., Patel, J., Shih, A., Li, Y., Bhagwat, N., Vasanthakumar, A., Fernandez, H. F., et al. (2010) · Cancer Cell · doi:10.1016/j.ccr.2010.11.015 · Cited by 2,766
Targeting the phosphoinositide 3-kinase pathway in cancer
Liu, P., Cheng, H.-L. M., Roberts, T. M., & Zhao, J. J. (2009) · Nature Reviews Drug Discovery · doi:10.1038/nrd2926 · Cited by 2,785
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma
Schwartzentruber, J., Korshunov, A., Liu, X.-Y., Jones, D. T. W., Pfaff, E., Jacob, K., Sturm, D., Fontebasso, A. M., Quang, D.-A. K., Tönjes, M., et al. (2012) · Nature · doi:10.1038/nature10833 · Cited by 2,631
Genomic instability — an evolving hallmark of cancer
Negrini, S., Gorgoulis, V. G., & Halazonetis, T. D. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2858 · Cited by 2,397
Identification of a CpG Island Methylator Phenotype that Defines a Distinct Subgroup of Glioma
Noushmehr, H., Weisenberger, D. J., Diefes, K., Phillips, H. S., Pujara, K., Berman, B. P., Pan, F., Pelloski, C. E., Sulman, E. P., Bhat, K. P., et al. (2010) · Cancer Cell · doi:10.1016/j.ccr.2010.03.017 · Cited by 2,337
COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
Forbes, S. A., Bindal, N., Bamford, S., Cole, C., Kok, C. Y., Beare, D., Jia, M., Shepherd, R., Leung, K., Menzies, A., et al. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkq929 · Cited by 2,278
The epidemiology of glioma in adults: a "state of the science" review
Ostrom, Q. T., Bauchet, L., Davis, F. G., Deltour, I., Fisher, J. L., Langer, C. E., Pekmezci, M., Schwartzbaum, J., Turner, M. C., Walsh, K. M., et al. (2014) · Neuro-Oncology · doi:10.1093/neuonc/nou087 · Cited by 2,320
International network of cancer genome projects
The International Cancer Genome Consortium (2010) · Nature · doi:10.1038/nature08987 · Cited by 2,299
Self-citationMolecular Basis of Colorectal Cancer
Markowitz, S. D., & Bertagnolli, M. M. (2009) · New England Journal of Medicine · doi:10.1056/nejmra0804588 · Cited by 2,052
Predicting the functional impact of protein mutations: application to cancer genomics
Reva, B. A., Antipin, Y., & Sander, C. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr407 · Cited by 2,046
IDH mutation impairs histone demethylation and results in a block to cell differentiation
Lu, C., Ward, P. S., Kapoor, G. S., Rohle, D., Turcan, S., Abdel-Wahab, O., Edwards, C. R., Khanin, R., Figueroa, M. E., Melnick, A., et al. (2012) · Nature · doi:10.1038/nature10860 · Cited by 1,985
IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype
Turcan, S., Rohle, D., Goenka, A., Walsh, L. A., Fang, F., Yilmaz, E., Campos, C., Fabius, A. W. M., Lu, C., Ward, P. S., et al. (2012) · Nature · doi:10.1038/nature10866 · Cited by 1,974
Sturm, D., Witt, H., Hovestadt, V., Khuong-Quang, D.-A., Jones, D. T. W., Konermann, C., Pfaff, E., Tönjes, M., Sill, M., Bender, S., et al. (2012) · Cancer Cell · doi:10.1016/j.ccr.2012.08.024 · Cited by 1,828
The emerging mechanisms of isoform-specific PI3K signalling
Vanhaesebroeck, B., Guillermet-Guibert, J., Graupera, M., & Bilanges, B. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2882 · Cited by 1,767
Principles of cancer therapy: oncogene and non-oncogene addiction
Luo, J., Solimini, N. L., & Elledge, S. J. (2009) · Cell · doi:10.1016/j.cell.2009.02.024 · Cited by 1,765
St. Jude Children's Research Hospital–Washington University Pediatric Cancer Genome Project (2012) · Nature Genetics · doi:10.1038/ng.1102 · Cited by 1,724
A comprehensive catalogue of somatic mutations from a human cancer genome
Pleasance, E. D., Cheetham, R. K., Stephens, P. J., McBride, D. J., Humphray, S. J., Greenman, C. D., Varela, I., Lin, M.-L., Ordóñez, G. R., Bignell, G. R., et al. (2010) · Nature · doi:10.1038/nature08658 · Cited by 1,696
Phosphoinositides: Tiny Lipids With Giant Impact on Cell Regulation
Balla, T. (2013) · Physiological Reviews · doi:10.1152/physrev.00028.2012 · Cited by 1,638
Tumor heterogeneity: Causes and consequences
Marusyk, A., & Polyák, K. (2009) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2009.11.002 · Cited by 1,646
Kadoch, C., Hargreaves, D. C., Hodges, H. C., Elias, L., Ho, L., Ranish, J. A., & Crabtree, G. R. (2013) · Nature Genetics · doi:10.1038/ng.2628 · Cited by 1,493
The molecular landscape of head and neck cancer
Leemans, C. R., Snijders, P. J. F., & Brakenhoff, R. H. (2018) · Nature reviews. Cancer · doi:10.1038/nrc.2018.11 · Cited by 1,457
Targeting cancer metabolism: a therapeutic window opens
Heiden, M. G. V. (2011) · Nature Reviews Drug Discovery · doi:10.1038/nrd3504 · Cited by 1,443
Epidemiologic and Molecular Prognostic Review of Glioblastoma
Thakkar, J. P., Dolecek, T. A., Horbinski, C., Ostrom, Q. T., Lightner, D. D., Barnholtz‐Sloan, J. S., & Villano, J. L. (2014) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-14-0275 · Cited by 1,473
Exciting New Advances in Neuro-Oncology: The Avenue to a Cure for Malignant Glioma
Van Meir, E. G., Hadjipanayis, C. G., Norden, A. D., Shu, H. K., Wen, P. Y., & Olson, J. J. (2010) · CA: A Cancer Journal for Clinicians · doi:10.3322/caac.20069 · Cited by 1,372
Killela, P. J., Reitman, Z. J., Jiao, Y., Bettegowda, C., Agrawal, N., Diaz, L. A., Friedman, A. H., Friedman, H., Gallia, G. L., Giovanella, B. C., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1303607110 · Cited by 1,368
Self-citationAcosta, J. N., Falcone, G. J., Rajpurkar, P., & Topol, E. J. (2022) · Nature Medicine · doi:10.1038/s41591-022-01981-2 · Cited by 1,365
Fueling Immunity: Insights into Metabolism and Lymphocyte Function
Pearce, E. L., Poffenberger, M. C., Chang, C.-H., & Jones, R. G. (2013) · Science · doi:10.1126/science.1242454 · Cited by 1,363
Epigenetic Determinants of CancerPreprint
Baylin, S. B., & Jones, P. A. (2016) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a019505 · Cited by 1,414
Epigenetic plasticity and the hallmarks of cancer
Flavahan, W. A., Gaskell, E., & Bernstein, B. E. (2017) · Science · doi:10.1126/science.aal2380 · Cited by 1,340
Tet2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation
Moran-Crusio, K., Reavie, L., Shih, A., Abdel-Wahab, O., Ndiaye-Lobry, D., Lobry, C., Figueroa, M. E., Vasanthakumar, A., Patel, J., Zhao, X., et al. (2011) · Cancer Cell · doi:10.1016/j.ccr.2011.06.001 · Cited by 1,339
Glioblastoma and Other Primary Brain Malignancies in Adults
Schaff, L. R., & Mellinghoff, I. K. (2023) · JAMA · doi:10.1001/jama.2023.0023 · Cited by 1,411
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Choi, M., Scholl, U. I., Ji, W., Liu, T., Tikhonova, I. R., Zumbo, P., Nayır, A., Bakkaloğlu, A., Özen, S., Sanjad, S. A., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910672106 · Cited by 1,385
Lessons from the Cancer Genome
Garraway, L. A., & Lander, E. S. (2013) · Cell · doi:10.1016/j.cell.2013.03.002 · Cited by 1,377
Insulator dysfunction and oncogene activation in IDH mutant gliomas
Flavahan, W. A., Drier, Y., Liau, B. B., Gillespie, S. M., Venteicher, A. S., Stemmer-Rachamimov, A. O., Suvà, M. L., & Bernstein, B. E. (2016) · Nature · doi:10.1038/nature16490 · Cited by 1,288
A compendium of mutational cancer driver genes
Martínez-Jiménez, F., Muiños, F., Sentís, I., Deu-Pons, J., Reyes-Salazar, I., Arnedo-Pac, C., Mularoni, L., Pich, O., Bonet, J., Kranas, H., et al. (2020) · Nature reviews. Cancer · doi:10.1038/s41568-020-0290-x · Cited by 1,340
McAlister, G. C., Nusinow, D. P., Jedrychowski, M. P., Wühr, M., Huttlin, E. L., Erickson, B. K., Rad, R., Haas, W., & Gygi, S. P. (2014) · Analytical Chemistry · doi:10.1021/ac502040v · Cited by 1,263
The Control of the Metabolic Switch in Cancers by Oncogenes and Tumor Suppressor Genes
Levine, A. J., & Puzio-Kuter, A. M. (2010) · Science · doi:10.1126/science.1193494 · Cited by 1,243
Glioblastoma: Overview of Disease and Treatment
Davis, M. E. (2016) · Clinical journal of oncology nursing · doi:10.1188/16.cjon.s1.2-8 · Cited by 1,308
van den Bent, M. J., Brandes, A. A., TAPHOORN, M. J. B., Kros, J. M., Kouwenhoven, M. C. M., Delattre, J., Bernsen, H. J. J. A., Frénay, M., Tijssen, C. C., Grisold, W., et al. (2012) · Journal of Clinical Oncology · doi:10.1200/jco.2012.43.2229 · Cited by 1,220
Frequent Mutations of Chromatin Remodeling Gene ARID1A in Ovarian Clear Cell Carcinoma
Jones, S., Wang, T., Shih, I., Mao, T., Nakayama, K., Roden, R. B. S., Glas, R., Slamon, D. J., Diaz, L. A., Vogelstein, B., et al. (2010) · Science · doi:10.1126/science.1196333 · Cited by 1,218
Self-citationThe genomic complexity of primary human prostate cancer
Berger, M. F., Lawrence, M. S., Demichelis, F., Drier, Y., Cibulskis, K., Sivachenko, A., Sboner, A., Esgueva, R., Pflueger, D., Sougnez, C. L., et al. (2011) · Nature · doi:10.1038/nature09744 · Cited by 1,232
Primary brain tumours in adults
Ricard, D., Idbaïh, A., Ducray, F., Lahutte, M., Hoang‐Xuan, K., & Delattre, J. (2012) · The Lancet · doi:10.1016/s0140-6736(11)61346-9 · Cited by 1,232
On the Origin of Cancer Metastasis
Seyfried, T. N., & Huysentruyt, L. C. (2012) · Critical Reviews™ in Oncogenesis · doi:10.1615/critrevoncog.v18.i1-2.40 · Cited by 1,218
Xiao, M., Yang, H., Xu, W., Ma, S., Lin, H., Zhu, H., Liu, L., Liu, Y., Yang, C., Xu, Y., et al. (2012) · Genes & Development · doi:10.1101/gad.191056.112 · Cited by 1,188
“Thus far, all functionally characterized FH or SDH mutations result in either a complete loss or reduction of enzymatic activity (Tomlinson et al. 2002; Pollard et al. 2005), indicating that both FH and SDH function as tumor suppressors.”
BackgroundInfluentialTumour microvesicles contain retrotransposon elements and amplified oncogene sequences
Balaj, L., Lessard, R., Dai, L., Cho, Y., Pomeroy, S. L., Breakefield, X. O., & Skog, J. (2011) · Nature Communications · doi:10.1038/ncomms1180 · Cited by 1,227
PI3K/AKT signaling pathway and cancer: an updated review
Martini, M., Santis, M. C. D., Braccini, L., Gulluni, F., & Hirsch, E. (2014) · Annals of Medicine · doi:10.3109/07853890.2014.912836 · Cited by 1,195
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes
Dalgliesh, G. L., Furge, K., Greenman, C., Chen, L., Bignell, G., Butler, A., Davies, H., Edkins, S., Hardy, C., Latimer, C., et al. (2010) · Nature · doi:10.1038/nature08672 · Cited by 1,173
Wen, P. Y., Weller, M., Lee, E. Q., Alexander, B. M., Barnholtz-Sloan, J. S., Barthel, F. P., Batchelor, T. T., Bindra, R. S., Chang, S. M., Chiocca, E. A., et al. (2020) · Neuro-Oncology · doi:10.1093/neuonc/noaa106 · Cited by 1,168
Hartmann, C. J., Meyer, J., Balß, J., Capper, D., Mueller, W. C., Christians, A., Felsberg, J., Wolter, M., Mawrin, C., Wick, W., et al. (2009) · Acta Neuropathologica · doi:10.1007/s00401-009-0561-9 · Cited by 1,163
Cancer Regression and Neurological Toxicity Following Anti-MAGE-A3 TCR Gene Therapy
Morgan, R. A., Chinnasamy, N., Abate‐Daga, D., Gros, A., Robbins, P. F., Zheng, Z., Dudley, M. E., Feldman, S. A., Yang, J. C., Sherry, R. M., et al. (2013) · Journal of Immunotherapy · doi:10.1097/cji.0b013e3182829903 · Cited by 1,181
An inhibitor of mutant IDH1 delays growth and promotes differentiation of glioma cells
Rohle, D., Popovici-Muller, J., Palaskas, N., Turcan, S., Grommes, C., Campos, C., Tsoi, J., Clark, O., Oldrini, B., Komisopoulou, E., et al. (2013) · Science · doi:10.1126/science.1236062 · Cited by 1,153
Treating cancer with selective CDK4/6 inhibitors
O'Leary, B., Finn, R. S., & Turner, N. C. (2016) · Nature Reviews Clinical Oncology · doi:10.1038/nrclinonc.2016.26 · Cited by 1,137
Weller, M., Wick, W., Aldape, K. D., Brada, M., Berger, M. S., Pfister, S. M., Nishikawa, R., Rosenthal, M. A., Wen, P. Y., Stupp, R., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.17 · Cited by 1,175
The Definition of Primary and Secondary Glioblastoma
Ohgaki, H., & Kleihues, P. (2012) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-12-3002 · Cited by 1,209
Phosphoglycerate dehydrogenase diverts glycolytic flux and contributes to oncogenesis
Locasale, J. W., Grassian, A. R., Melman, T., Lyssiotis, C. A., Mattaini, K. R., Bass, A. J., Heffron, G., Metallo, C. M., Muranen, T., Sharfi, H., et al. (2011) · Nature Genetics · doi:10.1038/ng.890 · Cited by 1,120
Glioma-Derived Mutations in IDH1 Dominantly Inhibit IDH1 Catalytic Activity and Induce HIF-1α
Zhao, S., Lin, Y., Xu, W., Jiang, W., Zha, Z., Wang, P., Yu, W., Li, Z., Gong, L., Peng, Y., et al. (2009) · Science · doi:10.1126/science.1170944 · Cited by 1,119
Advances in understanding cancer genomes through second-generation sequencing
Meyerson, M. M., Gabriel, S., & Getz, G. A. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2841 · Cited by 1,142
Wu, G., Li, Y., Qu, C., Chen, X. '., Edmonson, M. N., Ma, X., Nagahawatte, P., Hedlund, E., Rusch, M., Huether, R., et al. (2014) · Nature Genetics · doi:10.1038/ng.2938 · Cited by 1,126
Tumor suppressors and cell metabolism: a recipe for cancer growth
Jones, R. G., & Thompson, C. B. (2009) · Genes & Development · doi:10.1101/gad.1756509 · Cited by 1,085
Identification of genomic alterations in oesophageal squamous cell cancer
Song, Y., Li, L., Ou, Y., Gao, Z., Li, E., Li, X., Zhang, W., Wang, J., Xu, L., Zhou, Y., et al. (2014) · Nature · doi:10.1038/nature13176 · Cited by 1,088
Self-citationModBase, a database of annotated comparative protein structure models, and associated resources
Pieper, U., Webb, B., Barkan, D. T., Schneidman‐Duhovny, D., Schlessinger, A., Braberg, H., Yang, Z., Meng, E., Pettersen, E. F., Huang, C. C., et al. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq1091 · Cited by 1,073
Targeting metabolic transformation for cancer therapy
Tennant, D. A., Durán, R. V., & Gottlieb, E. (2010) · Nature reviews. Cancer · doi:10.1038/nrc2817 · Cited by 1,073
Initial impact of the sequencing of the human genome
Lander, E. S. (2011) · Nature · doi:10.1038/nature09792 · Cited by 1,044
Analysis of the IDH1 codon 132 mutation in brain tumors
Balss, J., Meyer, J., Mueller, W., Korshunov, A., Hartmann, C., & von Deimling, A. (2008) · Acta Neuropathologica · doi:10.1007/s00401-008-0455-2 · Cited by 1,036
CancerSEA: a cancer single-cell state atlas
Yuan, H., Yan, M., Zhang, G., Liu, W., Deng, C., Liao, G., Xu, L., Luo, T., Yan, H., Long, Z., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky939 · Cited by 1,048
Self-citationIDH1 mutations are early events in the development of astrocytomas and oligodendrogliomas
Watanabe, T., Nobusawa, S., Kleihues, P., & Ohgaki, H. (2009) · The American Journal of Pathology · doi:10.2353/ajpath.2009.080958 · Cited by 1,027
Pollard, S. M., Yoshikawa, K., Clarke, I. D., Danovi, D., Stricker, S., Russell, R., Bayani, J., Head, R., Lee, M., Bernstein, M., et al. (2009) · Cell Stem Cell · doi:10.1016/j.stem.2009.03.014 · Cited by 1,025
Diverse somatic mutation patterns and pathway alterations in human cancers
Kan, Z., Jaiswal, B. S., Stinson, J., Janakiraman, V., Bhatt, D., Stern, H. M., Yue, P., Haverty, P. M., Bourgon, R., Zheng, J., et al. (2010) · Nature · doi:10.1038/nature09208 · Cited by 1,046
Metabolic requirements for the maintenance of self-renewing stem cells
Ito, K., & Suda, T. (2014) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3772 · Cited by 1,014
Isocitrate Dehydrogenase 1 Codon 132 Mutation Is an Important Prognostic Biomarker in Gliomas
Sanson, M., Marie, Y., Paris, S., Idbaïh, A., Laffaire, J., Ducray, F., Hallani, S. E., Boisselier, B., Mokhtari, K., Hoang‐Xuan, K., et al. (2009) · Journal of Clinical Oncology · doi:10.1200/jco.2009.21.9832 · Cited by 1,049
Targeting TGF-β Signaling in Cancer
Colak, S., & ten Dijke, P. (2017) · Trends in cancer · doi:10.1016/j.trecan.2016.11.008 · Cited by 1,003
K + Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
Choi, M., Scholl, U. I., Yue, P., Björklund, P., Zhao, B., Nelson-Williams, C. J., Ji, W., Cho, Y., Patel, A. P., Men, C. J., et al. (2011) · Science · doi:10.1126/science.1198785 · Cited by 999
Links between metabolism and cancerPreprint
Dang, C. V. (2012) · Genes & Development · doi:10.1101/gad.189365.112 · Cited by 1,021
Tackling the cancer stem cells — what challenges do they pose?
Pattabiraman, D. R., & Weinberg, R. A. (2014) · Nature Reviews Drug Discovery · doi:10.1038/nrd4253 · Cited by 1,013
A window into third-generation sequencing
Schadt, E. E., Turner, S., & Kasarskis, A. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq416 · Cited by 1,026
Cancer Cell Metabolism: One Hallmark, Many Faces
Cantor, J. R., & Sabatini, D. M. (2012) · Cancer Discovery · doi:10.1158/2159-8290.cd-12-0345 · Cited by 989
How cancer metabolism is tuned for proliferation and vulnerable to disruption
Schulze, A., & Harris, A. L. (2012) · Nature · doi:10.1038/nature11706 · Cited by 945
Cancer Epigenetics: Tumor Heterogeneity, Plasticity of Stem-like States, and Drug Resistance
Easwaran, H., Tsai, H.-C., & Baylin, S. B. (2014) · Molecular Cell · doi:10.1016/j.molcel.2014.05.015 · Cited by 915
Glucose Deprivation Contributes to the Development of KRAS Pathway Mutations in Tumor Cells
Yun, J., Rago, C., Cheong, I., Pagliarini, R., Angenendt, P., Rajagopalan, H., Schmidt, K., Willson, J. K. V., Markowitz, S., Zhou, S., et al. (2009) · Science · doi:10.1126/science.1174229 · Cited by 914
Self-citationTargeting the unfolded protein response in disease
Hetz, C. A., Chevet, É., & Harding, H. P. (2013) · Nature Reviews Drug Discovery · doi:10.1038/nrd3976 · Cited by 942
Goodenberger, M. L., & Jenkins, R. B. (2012) · Cancer Genetics · doi:10.1016/j.cancergen.2012.10.009 · Cited by 885
Metadata
- Authors
- Parsons, D. W., Jones, S., Zhang, X., Lin, J. C.-H., Leary, R. J., Angenendt, P., Mankoo, P., Carter, H., Siu, I.-M., Gallia, G. L., Olivi, A., McLendon, R., Rasheed, B. A., Keir, S., Nikolskaya, T., Nikolsky, Y., Busam, D. A., Tekleab, H., Diaz, L. A., Hartigan, J., Smith, D. R., Strausberg, R. L., Marie, S. K. N., Shinjo, S. M. O., Yan, H., Riggins, G. J., Bigner, D. D., Karchin, R., Papadopoulos, N., Parmigiani, G., Vogelstein, B., Velculescu, V. E., & Kinzler, K. W.
- Affiliations
- Howard Hughes Medical Institute (US)
- Ludwig Center for Cancer Genetics and Therapeutics, and Howard Hughes Medical Institute at Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA.
- Corresponding author
- Parsons, D. Williams
- Zhang, Xiaosong
- Lin, Jimmy Cheng-Ho
- Leary, Rebecca J.
- Angenendt, Philipp
- Vogelstein, Bert
- Velculescu, Victor E.
- Kinzler, Kenneth W.
- ORCID
- Parsons, D. Williams
- Zhang, Xiaosong
- Lin, Jimmy Cheng-Ho
- Leary, Rebecca J.
- Carter, Hannah
- Gallia, Gary L.
- Olivi, Alessandro
- McLendon, Roger
- Keir, Stephen
- Diaz, Luis A.
- Marie, Suely Kazue Nagahashi
- Yan, Hai
- Riggins, Gregory J.
- Bigner, Darell D.
- Karchin, Rachel
- Parmigiani, Giovanni
- Vogelstein, Bert
- Velculescu, Victor E.
- Kinzler, Kenneth W.
- Venue
- Science
- Published
- 2008-09-26
- Volume
- 321
- Issue
- 5897
- Pages
- 1807-1812
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC2820389
- OpenAlex
- W2040827479
- Cited by
- 5,857
- References
- 51
- Citations by year
- 2026: 131 · 2025: 160 · 2024: 189 · 2023: 260 · 2022: 256 · 2021: 370 · 2020: 344 · 2019: 313 · 2018: 329 · 2017: 347 · 2016: 353 · 2015: 373 · 2014: 410 · 2013: 428 · 2012: 457
- FWCI
- 172.43
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Scientific Electronic Library Online (São Paulo Research Foundation, Latin American and Caribbean Center on Health Sciences Information, Conselho Nacional de Desenvolvimento Científico e Tecnológico) (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health (5r01ca121113-15, 5p50ns020023-30)
- National Cancer Institute (CA108786., CA 57345, R01-CA121113, CA-121113, CA43460, CA-11898, R37CA043460, CA09547, P50CA108786, R01CA140316, P50CA062924, R37CA057345, T32CA009547, CA 62924)
- National Institute of Neurological Disorders and Stroke (5P50NS20023, R01NS052507, NS052507)
- Topics
- Health Sciences › Medicine › Oncology › Glioma Diagnosis and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Keywords
- glioblastoma, IDH1 mutation, IDH1, somatic mutations, gene amplification, gene deletion, gene expression profiling, secondary glioblastoma, overall survival, targeted therapy
- MeSH terms
- Adult, Brain Neoplasms, Female, Gene Amplification, Glioblastoma, Humans, Isocitrate Dehydrogenase, Male, Middle Aged, Mutation, Signal Transduction, Genome, Human, Gene Expression Regulation, Neoplastic, Survival Rate, Sequence Analysis, DNA, Gene Dosage, Mutation, Missense, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Gene Expression Profiling
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
