title: Mutations in CIC and FUBP1 contribute to human oligodendroglioma.
abstract: 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.
authors.affiliation: Ludwig Center for Cancer Genetics and Howard Hughes Medical Institutions, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21287, USA.
authors.forename: Chetan
authors.initials: C
authors.lastname: Bettegowda
authors.forename: Nishant
authors.initials: N
authors.lastname: Agrawal
authors.forename: Yuchen
authors.initials: Y
authors.lastname: Jiao
authors.forename: Mark
authors.initials: M
authors.lastname: Sausen
authors.forename: Laura D
authors.initials: LD
authors.lastname: Wood
authors.forename: Ralph H
authors.initials: RH
authors.lastname: Hruban
authors.forename: Fausto J
authors.initials: FJ
authors.lastname: Rodriguez
authors.forename: Daniel P
authors.initials: DP
authors.lastname: Cahill
authors.forename: Roger
authors.initials: R
authors.lastname: McLendon
authors.forename: Gregory
authors.initials: G
authors.lastname: Riggins
authors.forename: Victor E
authors.initials: VE
authors.lastname: Velculescu
authors.forename: Sueli Mieko
authors.initials: SM
authors.lastname: Oba-Shinjo
authors.forename: Suely Kazue Nagahashi
authors.initials: SK
authors.lastname: Marie
authors.forename: Bert
authors.initials: B
authors.lastname: Vogelstein
authors.forename: Darell
authors.initials: D
authors.lastname: Bigner
authors.forename: Hai
authors.initials: H
authors.lastname: Yan
authors.forename: Nickolas
authors.initials: N
authors.lastname: Papadopoulos
authors.forename: Kenneth W
authors.initials: KW
authors.lastname: Kinzler
mesh_terms: D001932:Brain Neoplasms / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D004265:DNA Helicases / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D005260:Female; D016147:Genes, Tumor Suppressor; D020022:Genetic Predisposition to Disease; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D009837:Oligodendroglioma / Q000235:genetics*; D016601:RNA-Binding Proteins; D051883:Receptor, Notch2 / Q000235:genetics; D012097:Repressor Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D017422:Sequence Analysis, DNA
chemical_list: C498610:CIC protein, human; D004268:DNA-Binding Proteins; C492258:FUBP1 protein, human; C497764:NOTCH2 protein, human; D016601:RNA-Binding Proteins; D051883:Receptor, Notch2; D012097:Repressor Proteins; D004265:DNA Helicases