http://www.cnr.it/ontology/cnr/individuo/prodotto/ID21198
IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. (Articolo in rivista)
- Type
- 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
- 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
- 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
- Autore CNR
Incoming links:
- Autore CNR di
- Prodotto
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi