An integrated genomic analysis of human glioblastoma multiforme.
An integrated genomic analysis of human glioblastoma multiforme.
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DOI：
10.1126/science.1164382
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发表时间：
2008-09-26
期刊：
影响因子：
--
通讯作者：
Kinzler KW
中科院分区：
文献类型：
--
作者：
Parsons DW;Jones S;Zhang X;Lin JC;Leary RJ;Angenendt P;Mankoo P;Carter H;Siu IM;Gallia GL;Olivi A;McLendon R;Rasheed BA;Keir S;Nikolskaya T;Nikolsky Y;Busam DA;Tekleab H;Diaz LA Jr;Hartigan J;Smith DR;Strausberg RL;Marie SK;Shinjo SM;Yan H;Riggins GJ;Bigner DD;Karchin R;Papadopoulos N;Parmigiani G;Vogelstein B;Velculescu VE;Kinzler KW
多形性胶质母细胞瘤（GBM）是最常见且致命的脑癌类型。为了确定GBM中的基因改变，我们对20661个蛋白质编码基因进行了测序，使用高密度寡核苷酸阵列确定了扩增和缺失情况，并在22个人类肿瘤样本中使用新一代测序技术进行了基因表达分析。这种综合分析导致发现了多种此前未知在GBM中发生改变的基因。最值得注意的是，我们在12%的GBM患者中发现了异柠檬酸脱氢酶1（IDH1）活性位点的反复突变。IDH1突变发生在很大一部分年轻患者以及大多数继发性GBM患者中，并且与总体生存期的延长有关。这些研究证明了无偏倚的基因组分析在人脑癌特征描述中的价值，并确定了一种对GBM分类和靶向治疗可能有用的基因改变。
Glioblastoma multiforme (GBM) is the most common and lethal type of brain cancer. To identify the genetic alterations in GBMs, we sequenced 20,661 protein coding genes, determined the presence of amplifications and deletions using high-density oligonucleotide arrays, and performed gene expression analyses using next-generation sequencing technologies in 22 human tumor samples. This comprehensive analysis led to the discovery of a variety of genes that were not known to be altered in GBMs. Most notably, we found recurrent mutations in the active site of isocitrate dehydrogenase 1 (IDH1) in 12% of GBM patients. Mutations in IDH1 occurred in a large fraction of young patients and in most patients with secondary GBMs and were associated with an increase in overall survival. These studies demonstrate the value of unbiased genomic analyses in the characterization of human brain cancer and identify a potentially useful genetic alteration for the classification and targeted therapy of GBMs.
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DOI：
10.1073/pnas.0712345105
发表时间：
2008-03-18
影响因子：
11.1
作者：
Jones, Sian;Chen, Wei-dong;Markowitz, Sanford D.
通讯作者：
Markowitz, Sanford D.
影响因子：
4.8
作者：
Geisbrecht, BV;Gould, SJ
通讯作者：
Gould, SJ
影响因子：
4.3
作者：
Kim, Sun Yee;Lee, Su Min;Park, Jeen-Woo
通讯作者：
Park, Jeen-Woo
影响因子：
10.7
作者：
Nekrutenko, A;Hillis, DM;Baker, RJ
通讯作者：
Baker, RJ
影响因子：
11.2
作者：
Broderick, DK;Di, CH;Yan, H
通讯作者：
Yan, H