Mutations in CIC and FUBP1 Contribute to Human Oligodendroglioma

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Bettegowda, Chetan ^{[1, 2, 3]} ; Agrawal, Nishant ^{[4, 2, 3]} ; Jiao, Yuchen ^{[2, 3]} ; Sausen, Mark ^{[2, 3]} ; Wood, Laura D. ^[5] ; Hruban, Ralph H. ^[5] ; Rodriguez, Fausto J. ^[5] ; Cahill, Daniel P. ^{[6, 7]} ; McLendon, Roger ^{[8, 9]} ; Riggins, Gregory ^{[1, 2, 3]} ; Velculescu, Victor E. ^{[2, 3]} ; Oba-Shinjo, Sueli Mieko ^[10] ; Marie, Suely Kazue Nagahashi ^[10] ; Vogelstein, Bert ^{[2, 3]} ; Bigner, Darell ^{[8, 9]} ; Yan, Hai ^{[8, 9]} ; Papadopoulos, Nickolas ^{[2, 3]} ; Kinzler, Kenneth W. ^{[2, 3]}

Afiliação do(s) autor(es)

^[1] Johns Hopkins Med Inst, Dept Neurosurg, Baltimore, MD 21287 - USA

^[2] Johns Hopkins Kimmel Canc Ctr, Ludwig Ctr Canc Genet, Baltimore, MD 21287 - USA

^[3] Johns Hopkins Kimmel Canc Ctr, Howard Hughes Med Inst, Baltimore, MD 21287 - USA

^[4] Johns Hopkins Med Inst, Dept Otolaryngol Head & Neck Surg, Baltimore, MD 21287 - USA

^[5] Johns Hopkins Med Inst, Dept Pathol, Sol Goldman Pancreat Canc Res Ctr, Baltimore, MD 21287 - USA

^[6] Baylor Coll Med, Houston, TX 77030 - USA

^[7] Univ Texas MD Anderson Canc Ctr, Dept Neurosurg, Houston, TX 77030 - USA

^[8] Duke Univ, Med Ctr, Preston Robert Tisch Brain Tumor Ctr Duke, Pediat Brain Tumor Fdn Inst, Durham, NC 27710 - USA

^[9] Duke Univ, Med Ctr, Dept Pathol, Durham, NC 27710 - USA

^[10] Univ Sao Paulo, Sch Med, Dept Neurol, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Science; v. 333, n. 6048, p. 1453-1455, SEP 9 2011.
• Citações Web of Science: 292

Resumo

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. (AU)

• Processo FAPESP: 01/12898-4 - Genoma clínico
• Beneficiário: Suely Kazue Nagahashi Marie
• Linha de fomento: Auxílio à Pesquisa - Programa GENOMA