IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. (Articolo in rivista) (literal)

Anno

• 2009-01-01T00:00:00+01:00 (literal)

Alternative label

• Bleeker FE; Lamba S; Leenstra S; Troost D; Hulsebos T; Vandertop WP; 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 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors.
  in Human mutation
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Bleeker FE; Lamba S; Leenstra S; Troost D; Hulsebos T; Vandertop WP; Frattini M; Molinari F; Knowles M; Cerrato A; Rodolfo M; Scarpa A; Felicioni L; Buttitta F; Malatesta S; Marchetti A; Bardelli A. (literal)

Rivista

• Human mutation (Rivista)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Fonnet E. Bleeker,1,2 Simona Lamba,2 Sieger Leenstra,3,4 Dirk Troost,5 Theo Hulsebos,6 W. Peter Vandertop,1,7 Milo Frattini,8,9 Francesca Molinari,9 Margaret Knowles,10 Aniello Cerrato,11 Monica Rodolfo,8 Aldo Scarpa,12 Lara Felicioni,13 Fiamma Buttitta,13 Sara Malatesta,13 Antonio Marchetti,13 and Alberto Bardelli2,14! 1Neurosurgical Center Amsterdam, Location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands 2Laboratory of Molecular Genetics, The OncoGenomics Center, Institute for Cancer Research and Treatment, University of Torino, Medical School, Candiolo, Italy 3Department of Neurosurgery, St. Elisabeth Ziekenhuis, Tilburg, The Netherlands 4Department of Neurosurgery, Erasmus Medical Center, Rotterdam, The Netherlands 5Departments of Neuropathology, The Netherlands 6Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands 7Neurosurgical Center Amsterdam, Location VU University Medical Center, Amsterdam, The Netherlands 8Department of Experimental Oncology, Istituto Nazionale Tumori; Milan, Italy 9Laboratory of Molecular Diagnostic Institute of Pathology, Locarno, Switzerland 10Section of Experimental Oncology, Leeds Institute for Molecular Medicine, Leeds, United Kingdom 11Institute of Endocrinology and Experimental Oncology, National Council of Research, Naples, Italy 12Department of Pathology, Section of Anatomic Pathology, University of Verona, Verona, Italy 13Clinical Research Center, Center of Excellence on Aging, University-Foundation, Chieti, Italy 14FIRC Institute of Molecular Oncology, Milan, Italy (literal)

Titolo

• IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. (literal)

Abstract

• 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 (IDH1R132) 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 IDH1R132 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 IDH1R132 in GBM. Strikingly, no IDH1 mutations were detected in the other tumor types. These data indicate that cancer mutations affecting IDH1R132 are tissue-specific, and suggest that it plays a unique role in the development of high-grade gliomas (literal)

Prodotto di

• Institute Experimental Endocrinology and Oncology \"Gaetano Salvatore\" (IEOS) (Istituto)
• Identificazione e caratterizzazione funzionale dei geni e delle proteine coinvolti nella tumorigenesi tiroidea (SV.P15.001.004) (Modulo)

Autore CNR

• ANIELLO CERRATO (Persona)

Incoming links:

Autore CNR di

• ANIELLO CERRATO (Persona)

Prodotto

• Institute Experimental Endocrinology and Oncology \"Gaetano Salvatore\" (IEOS) (Istituto)
• Identificazione e caratterizzazione funzionale dei geni e delle proteine coinvolti nella tumorigenesi tiroidea (SV.P15.001.004) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Human mutation (Rivista)