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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6048
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pubmed:dateCreated |
2011-9-9
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pubmed:abstractText |
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.
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pubmed:grant |
http://linkedlifedata.com/resource/pubmed/grant/,
http://linkedlifedata.com/resource/pubmed/grant/CA11898,
http://linkedlifedata.com/resource/pubmed/grant/CA121113,
http://linkedlifedata.com/resource/pubmed/grant/CA43460,
http://linkedlifedata.com/resource/pubmed/grant/CA57345,
http://linkedlifedata.com/resource/pubmed/grant/CA62924,
http://linkedlifedata.com/resource/pubmed/grant/N01 CN043302,
http://linkedlifedata.com/resource/pubmed/grant/N01-CN-43302,
http://linkedlifedata.com/resource/pubmed/grant/NS20023,
http://linkedlifedata.com/resource/pubmed/grant/P50 CA062924-06,
http://linkedlifedata.com/resource/pubmed/grant/P50 NS020023-16,
http://linkedlifedata.com/resource/pubmed/grant/R01 CA057345-08,
http://linkedlifedata.com/resource/pubmed/grant/R01 CA121113-01,
http://linkedlifedata.com/resource/pubmed/grant/R37 CA043460-16,
http://linkedlifedata.com/resource/pubmed/grant/RC2 DE020957-01,
http://linkedlifedata.com/resource/pubmed/grant/RC2DE020957,
http://linkedlifedata.com/resource/pubmed/grant/T32 CA009574
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/CIC protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/DNA Helicases,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/FUBP1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/NOTCH2 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Receptor, Notch2,
http://linkedlifedata.com/resource/pubmed/chemical/Repressor Proteins
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1095-9203
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pubmed:author |
pubmed-author:AgrawalNishantN,
pubmed-author:BettegowdaChetanC,
pubmed-author:BignerDarellD,
pubmed-author:CahillDaniel PDP,
pubmed-author:HrubanRalph HRH,
pubmed-author:JiaoYuchenY,
pubmed-author:KinzlerKenneth WKW,
pubmed-author:MarieSuely Kazue NagahashiSK,
pubmed-author:McLendonRogerR,
pubmed-author:Oba-ShinjoSueli MiekoSM,
pubmed-author:PapadopoulosNickolasN,
pubmed-author:RigginsGregoryG,
pubmed-author:RodriguezFausto JFJ,
pubmed-author:SausenMarkM,
pubmed-author:VelculescuVictor EVE,
pubmed-author:VogelsteinBertB,
pubmed-author:WoodLaura DLD,
pubmed-author:YanHaiH
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pubmed:issnType |
Electronic
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pubmed:day |
9
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pubmed:volume |
333
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1453-5
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pubmed:dateRevised |
2011-9-26
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pubmed:meshHeading |
pubmed-meshheading:21817013-Brain Neoplasms,
pubmed-meshheading:21817013-Chromosomes, Human, Pair 1,
pubmed-meshheading:21817013-Chromosomes, Human, Pair 19,
pubmed-meshheading:21817013-DNA Helicases,
pubmed-meshheading:21817013-DNA-Binding Proteins,
pubmed-meshheading:21817013-Exons,
pubmed-meshheading:21817013-Female,
pubmed-meshheading:21817013-Genes, Tumor Suppressor,
pubmed-meshheading:21817013-Genetic Predisposition to Disease,
pubmed-meshheading:21817013-Humans,
pubmed-meshheading:21817013-Loss of Heterozygosity,
pubmed-meshheading:21817013-Male,
pubmed-meshheading:21817013-Mutation,
pubmed-meshheading:21817013-Mutation, Missense,
pubmed-meshheading:21817013-Oligodendroglioma,
pubmed-meshheading:21817013-Receptor, Notch2,
pubmed-meshheading:21817013-Repressor Proteins,
pubmed-meshheading:21817013-Sequence Analysis, DNA
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pubmed:year |
2011
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pubmed:articleTitle |
Mutations in CIC and FUBP1 contribute to human oligodendroglioma.
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pubmed:affiliation |
Ludwig Center for Cancer Genetics and Howard Hughes Medical Institutions, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21287, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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