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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.
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“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.
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“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.
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“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]
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“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
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“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
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“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]
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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
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