Science (American Association for the Advancement of Science), 2011-09, Vol.333 (6048), p.1453-1455
- Bettegowda, Chetan
- Agrawal, Nishant
- Jiao, Yuchen
- Sausen, Mark
- Wood, Laura D.
- Hruban, Ralph H.
- Rodriguez, Fausto J.
- Cahill, Daniel P.
- McLendon, Roger
- Riggins, Gregory
- Velculescu, Victor E.
- Oba-Shinjo, Sueli Mieko
- Marie, Suely Kazue Nagahashi
- Vogelstein, Bert
- Bigner, Darell
- Yan, Hai
- Papadopoulos, Nickolas
- Kinzler, Kenneth W.
2011
Details
- Autor(en) / Beteiligte
- Bettegowda, Chetan
- Agrawal, Nishant
- Jiao, Yuchen
- Sausen, Mark
- Wood, Laura D.
- Hruban, Ralph H.
- Rodriguez, Fausto J.
- Cahill, Daniel P.
- McLendon, Roger
- Riggins, Gregory
- Velculescu, Victor E.
- Oba-Shinjo, Sueli Mieko
- Marie, Suely Kazue Nagahashi
- Vogelstein, Bert
- Bigner, Darell
- Yan, Hai
- Papadopoulos, Nickolas
- Kinzler, Kenneth W.
- Titel
- Mutations in CIC and FUBP1 Contribute to Human Oligodendroglioma
- Ist Teil von
- Science (American Association for the Advancement of Science), 2011-09, Vol.333 (6048), p.1453-1455
- Ort / Verlag
- Washington, DC: American Association for the Advancement of Science
- Erscheinungsjahr
- 2011
- Link zum Volltext
- Quelle
- American Association for the Advancement of Science
- Beschreibungen/Notizen
- Oligodendrogliomas are the second most common malignant brain tumor in adults and exhibit characteristic losses of chromosomes 1p and 19q. To identify the molecular genetic basis for this alteration, we performed exomic sequencing of seven tumors. Among other changes, we found that the CIC gene (homolog of the Drosophila gene capicua) on chromosome 19q was somatically mutated in six cases and that the FUBP1 gene [encoding far-upstream element (FUSE) binding protein] on chromosome 1p was somatically mutated in two tumors. Examination of 27 additional oligodendrogliomas revealed 12 and 3 more tumors with mutations of CIC and FUBP1, respectively, 58% of which were predicted to result in truncations of the encoded proteins. These results suggest a critical role for these genes in the biology and pathology of oligodendrocytes.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0036-8075, 1095-9203eISSN: 1095-9203DOI: 10.1126/science.1210557Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3170506
- Format
- –
- Schlagworte
- Alleles, Biological and medical sciences, Biology, Brain cancer, Brain neoplasms, Brain Neoplasms - genetics, Cancer, Chromosomes, Chromosomes, Human, Pair 1 - genetics, Chromosomes, Human, Pair 19 - genetics, DNA Helicases - chemistry, DNA Helicases - genetics, DNA Helicases - metabolism, DNA-Binding Proteins - chemistry, DNA-Binding Proteins - genetics, DNA-Binding Proteins - metabolism, Drosophila, Exons, Female, Genes, Genes, Tumor Suppressor, Genetic mutation, Genetic Predisposition to Disease, Genetics, Humans, Loss of Heterozygosity, Male, Medical sciences, Mutation, Mutation, Missense, Mutations, Neurology, Oligodendroglioma, Oligodendroglioma - genetics, Oncology, Pathology, Proteins, Receptor, Notch2 - genetics, Repressor Proteins - chemistry, Repressor Proteins - genetics, Repressor Proteins - metabolism, Sequence Analysis, DNA, Tumors, Tumors of the nervous system. Phacomatoses