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1.发明公开GENETIC ALTERATIONS IN ISOCITRATE DEHYDROGENASE AND OTHER GENES IN MALIGNANT GLIOMA 审中-公开异常脱氧核糖核酸酶及其他基因在恶性脑胶质瘤中的遗传学改变
公开(公告)号：EP3266879A1
公开(公告)日：2018-01-10
申请号：EP17168866.6
申请日：2009-09-03
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth , PAPADOPOULOS, Nickolas , VELCULESCU, Victor , PARMIGIANI, Giovanni , KARCHIN, Rachel , JONES, Sian , YAN, Hai , BIGNER, Darell , KUAN, Chien-Tsun , RIGGINS, Gregory , PARSONS, Williams , ZHANG, Xiaosong , LIN, Jimmy Cheng-Ho , LEARY, Rebecca , ANGENENDT, Philipp
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q2600/112 , C12Q2600/118 , C12Q2600/136 , C12Q2600/156
摘要： We found mutations of the R132 residue of isocitrate dehydrogenase 1 (IDH1) in the majority of grade II and III astrocytomas and oligodendrogliomas as well as in glioblastomas that develop from these lower grade lesions. Those tumors without mutations in IDH1 often had mutations at the analogous R172 residue of the closely related IDH2 gene. These findings have important implications for the pathogenesis and diagnosis of malignant gliomas.
摘要翻译： 我们在大多数II级和III级星形细胞瘤以及少突胶质细胞瘤以及从这些低级病变发展而来的胶质母细胞瘤中发现异柠檬酸脱氢酶1（IDH1）的R132残基突变。 没有IDH1突变的那些肿瘤通常在密切相关的IDH2基因的类似R172残基处具有突变。 这些发现对于恶性神经胶质瘤的发病机制和诊断具有重要意义。
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公开(公告)号：EP3266879B1
公开(公告)日：2019-07-03
申请号：EP17168866.6
申请日：2009-09-03
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth , PAPADOPOULOS, Nickolas , VELCULESCU, Victor , PARMIGIANI, Giovanni , KARCHIN, Rachel , JONES, Sian , YAN, Hai , BIGNER, Darell , KUAN, Chien-Tsun , RIGGINS, Gregory , PARSONS, Williams , ZHANG, Xiaosong , LIN, Jimmy Cheng-Ho , LEARY, Rebecca , ANGENENDT, Philipp
IPC分类号： C12Q1/68
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3.发明授权GENETIC ALTERATIONS IN ISOCITRATE DEHYDROGENASE AND OTHER GENES IN MALIGNANT GLIOMA 有权异柠檬酸脱氢酶基因变异并在恶性胶质瘤的其他基因
公开(公告)号：EP2326735B1
公开(公告)日：2016-11-16
申请号：EP09792198.5
申请日：2009-09-03
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth W. , PARSONS, D. Williams , ZHANG, Xiaosong , LIN, Jimmy Cheng-Ho , LEARY, Rebecca J. , ANGENENDT, Philipp , PAPADOPOULOS, Nickolas , VELCULESCU, Victor , PARMIGIANI, Giovanni , KARCHIN, Rachel , JONES, Sian , YAN, Hai , BIGNER, Darell , KUAN, Chien-Tsun , RIGGINS, Gregory J.
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q2600/112 , C12Q2600/118 , C12Q2600/136 , C12Q2600/156
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4.发明公开GENETIC ALTERATIONS IN ISOCITRATE DEHYDROGENASE AND OTHER GENES IN MALIGNANT GLIOMA 有权异柠檬酸脱氢酶基因变异并在恶性胶质瘤的其他基因
公开(公告)号：EP2326735A1
公开(公告)日：2011-06-01
申请号：EP09792198.5
申请日：2009-09-03
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth W. , PARSONS, D. Williams , ZHANG, Xiaosong , LIN, Jimmy Chang-Ho , LEARY, Rebecca J. , ANGENENDT, Philipp , PAPADOPOULOS, Nickolas , VELCULESCU, Victor , PARMIGIANI, Giovanni , KARCHIN, Rachel , JONES, Sian , YAN, Hai , BIGNER, Darell , KUAN, Chien-Tsun
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q2600/112 , C12Q2600/118 , C12Q2600/136 , C12Q2600/156
摘要： We found mutations of the R132 residue of isocitrate dehydrogenase 1 (IDH1) in the majority of grade II and III astrocytomas and oligodendrogliomas as well as in glioblastomas that develop from these lower grade lesions. Those tumors without mutations in IDH1 often had mutations at the analogous R172 residue of the closely related IDH2 gene. These findings have important implications for the pathogenesis and diagnosis of malignant gliomas.
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公开(公告)号：EP2417268B1
公开(公告)日：2016-05-11
申请号：EP10749365.2
申请日：2010-03-05
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth W. , PARSONS, D. Williams , JONES, Sian , KERN, Scott , HRUBAN, Ralph , ESHLEMAN, James R. , GOGGINS, Michael , KLEIN, Alison , HIDALGO, Manuel , VELCULESCU, Victor E.
IPC分类号： C12Q1/68 , G01N33/68 , G01N33/574
CPC分类号： C12Q1/6886 , A61K31/407 , C12Q2600/106 , C12Q2600/156 , C12Q2600/158 , G01N33/57438 , G01N2333/47
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6.发明公开PATHWAYS UNDERLYING PANCREATIC TUMORIGENESIS AND AN HEREDITARY PANCREATIC CANCER GENE 有权胰腺肿瘤的发生和遗传PANKREASKREBSGEN信号通路
公开(公告)号：EP2326734A2
公开(公告)日：2011-06-01
申请号：EP09812193.2
申请日：2009-09-03
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth, W. , PARSONS, D., Williams , JONES, Sian , ZHANG, Xiaosong , LIN, Jimmy Chang-Ho , LEARY, Rebecca J. , ANGENENDT, Philipp , PAPADOPOULOS, Nickolas , VELCULESCU, Victor , PARMIGIANI, Giovanni , KARCHIN, Rachel , KERN, Scott , HRUBAN, Ralph , ESHLEMAN, James R. , GOGGINS, Michael , KLEIN, Alison
IPC分类号： C12Q1/68
CPC分类号： G01N33/57438 , C12Q1/6886 , C12Q2600/156 , G01N2800/50
摘要： There are currently few therapeutic options for patients with pancreatic cancers and new insights into the pathogenesis of this lethal disease are urgently needed. To this end, we performed a comprehensive analysis of the genes altered in 24 pancreatic tumors. First, we determined the sequences of 23,781 transcripts, representing 20,583 protein-encoding genes, in DNA from these tumors. Second, we searched for homozygous deletions and amplifications using microarrays querying ~one million single nucleotide polymorphisms in each sample. Third, we analyzed the transcriptomes of the same samples using SAGE and next-generation sequencing-by-synthesis technologies. We found that pancreatic cancers contain an average of 63 genetic alterations, of which 49 are point mutations, 8 are homozygous deletions, and 6 are amplifications. Further analyses revealed a core set of 12 regulatory processes or pathways that were each genetically altered in 70 % to 100 % of the samples. The data suggest that dysregulation of this core set of pathways is responsible for the major features of pancreatic tumorigenesis.
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公开(公告)号：EP2417268A2
公开(公告)日：2012-02-15
申请号：EP10749365.2
申请日：2010-03-05
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth W. , PARSONS, D. Williams , JONES, Sian , KERN, Scott , HRUBAN, Ralph , ESHLEMAN, James R. , GOGGINS, Michael , KLEIN, Alison , HIDALGO, Manuel , VELCULESCU, Victor E.
IPC分类号： C12Q1/68 , G01N33/68 , G01N33/574
CPC分类号： C12Q1/6886 , A61K31/407 , C12Q2600/106 , C12Q2600/156 , C12Q2600/158 , G01N33/57438 , G01N2333/47
摘要： The present invention provides a method for detecting mutations in the
PALB2 gene in pancreatic cancer patients and in individuals having a family history of pancreatic cancer. Methods are also provided for diagnosing a predisposition to pancreatic cancer, for predicting a patient's response to pancreatic cancer therapies, and for treating pancreatic cancer, based on presence of a
PALB2 mutation or abberant
PALB2 gene expression in a patient.-
8.发明授权PATHWAYS UNDERLYING PANCREATIC TUMORIGENESIS AND AN HEREDITARY PANCREATIC CANCER GENE 有权胰腺肿瘤的发生和遗传PANKREASKREBSGEN信号通路
公开(公告)号：EP2326734B1
公开(公告)日：2016-11-09
申请号：EP09812193.2
申请日：2009-09-03
发明人： VOGELSTEIN, Bert , KINZLER, Kenneth, W. , PARSONS, Donald William , JONES, Sian , ZHANG, Xiaosong , LIN, Jimmy Chang-Ho , LEARY, Rebecca J. , ANGENENDT, Philipp , PAPADOPOULOS, Nickolas , VELCULESCU, Victor , PARMIGIANI, Giovanni , KARCHIN, Rachel , KERN, Scott , HRUBAN, Ralph , ESHLEMAN, James R. , GOGGINS, Michael , KLEIN, Alison
IPC分类号： C12Q1/68
CPC分类号： G01N33/57438 , C12Q1/6886 , C12Q2600/156 , G01N2800/50
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