Mutations in CIC and FUBP1 Contribute to Human Oligodendroglioma

被引：412

作者：

Bettegowda, Chetan ^{[1
,2
,3
]}

Agrawal, Nishant ^{[1
,2
,4
]}

Jiao, Yuchen ^{[1
,2
]}

Sausen, Mark ^{[1
,2
]}

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. ^{[1
,2
]}

Oba-Shinjo, Sueli Mieko ^{[10
]}

Marie, Suely Kazue Nagahashi ^{[10
]}

Vogelstein, Bert ^{[1
,2
]}

Bigner, Darell ^{[8
,9
]}

Yan, Hai ^{[8
,9
]}

Papadopoulos, Nickolas ^{[1
,2
]}

Kinzler, Kenneth W. ^{[1
,2
]}

机构：

[1] Johns Hopkins Kimmel Canc Ctr, Ludwig Ctr Canc Genet, Baltimore, MD 21287 USA

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

[3] Johns Hopkins Med Inst, Dept Neurosurg, 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] Univ Texas MD Anderson Canc Ctr, Dept Neurosurg, Houston, TX 77030 USA

[7] Baylor Coll Med, 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

来源：

SCIENCE | 2011年 / 333卷 / 6048期

基金：

美国国家卫生研究院; 巴西圣保罗研究基金会;

关键词：

C-MYC; GLIOMAS; CAPICUA; CANCER; 19Q; 1P; OLIGOASTROCYTOMAS; REPRESSION; DELETIONS; GENES;

D O I：

10.1126/science.1210557

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：1453 / 1455

页数：3

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