The DOI matches its Crossref record; 17 of the 17 references it cites were found in a registry or an index.
IDH1 mutations at residue p.R132 (IDH1R132) occur frequently in high-grade gliomas but not in other solid tumors
Open accessAbstract
Systematic sequence profiling of the Glioblastoma Multiforme (GBM) genome has recently led to the identification of somatic mutations in the isocitrate dehydrogenase 1 (IDH1) gene. Interestingly, only the evolutionarily conserved residue R132 located in the substrate binding site of IDH1 was found mutated in GBM. At present, the occurrence and the relevance of p.R132 (IDH1(R132)) variants in tumors other than GBMs is largely unknown. We searched for mutations at position R132 of the IDH1 gene in a panel of 672 tumor samples. These included high-grade glioma, gastrointestinal stromal tumors (GIST), melanoma, bladder, breast, colorectal, lung, ovarian, pancreas, prostate, and thyroid carcinoma specimens. In addition, we assessed a panel of 84 cell lines from different tumor lineages. Somatic mutations affecting the IDH1(R132) residue were detected in 20% (23 of 113) high-grade glioma samples. In addition to the previously reported p.R132H and p.R132S alleles, we identified three novel somatic mutations (p.R132C, p.R132G, and p.R132L) affecting residue IDH1(R132) in GBM. Strikingly, no IDH1 mutations were detected in the other tumor types. These data indicate that cancer mutations affecting IDH1(R132) are tissue-specific, and suggest that it plays a unique role in the development of high-grade gliomas.
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Cancer-associated IDH1 mutations produce 2-hydroxyglutarate
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Metadata
- Authors
- Bleeker, F. E., Lamba, S., Leenstra, S., Troost, D., Hulsebos, T., Vandertop, W. P., Frattini, M., Molinari, F., Knowles, M., Cerrato, A., Rodolfo, M., Scarpa, A., Felicioni, L., Buttitta, F., Malatesta, S., Marchetti, A., & Bardelli, A.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2009-01
- Volume
- 30
- Issue
- 1
- Pages
- 7-11
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2160300695
- Cited by
- 363
- References
- 17
- FWCI
- 22.28
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Bleeker, F. E., Lamba, S., Leenstra, S., Troost, D., Hulsebos, T., Vandertop, W. P., Frattini, M., Molinari, F., Knowles, M., Cerrato, A., Rodolfo, M., Scarpa, A., Felicioni, L., Buttitta, F., Malatesta, S., Marchetti, A., & Bardelli, A. (2009). IDH1 mutations at residue p.R132 (IDH1R132) occur frequently in high-grade gliomas but not in other solid tumors. Human Mutation. https://doi.org/10.1002/humu.20937
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