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公开(公告)号：US20100136560A1
公开(公告)日：2010-06-03
申请号：US12619726
申请日：2009-11-17
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q2600/156
摘要： Genome-wide analysis of copy number changes in breast and colorectal tumors used approaches that can reliably detect homozygous deletions and amplifications. The number of genes altered by major copy number changes—deletion of all copies or amplification of at least twelve copies per cell—averaged thirteen per tumor. These data were integrated with previous mutation analyses of the Reference Sequence genes in these same tumor types to identify genes and cellular pathways affected by both copy number changes and point alterations. Pathways enriched for genetic alterations include those controlling cell adhesion, intracellular signaling, DNA topological change, and cell cycle control. These analyses provide an integrated view of copy number and sequencing alterations on a genome-wide scale and identify genes and pathways that are useful for cancer diagnosis and therapy.
摘要翻译： 使用可以可靠地检测纯合缺失和扩增的方法对乳腺和结肠直肠肿瘤的拷贝数变化进行全基因组分析。 通过主要拷贝数变化改变的基因数量 - 全部拷贝的缺失或每个细胞至少12个拷贝的扩增，平均每个肿瘤13个。 这些数据与这些相同肿瘤类型中的参考序列基因的先前突变分析相结合，以鉴定受拷贝数变化和点改变影响的基因和细胞途径。 富含遗传改变的途径包括控制细胞粘附，细胞内信号转导，DNA拓扑变化和细胞周期控制的途径。 这些分析提供了在全基因组范围内的拷贝数和排序变化的综合视图，并确定了可用于癌症诊断和治疗的基因和途径。
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公开(公告)号：US08709723B2
公开(公告)日：2014-04-29
申请号：US13461268
申请日：2012-05-01
CPC分类号： C12Q1/6886 , C12Q2600/156
摘要： Genome-wide analysis of copy number changes in breast and colorectal tumors used approaches that can reliably detect homozygous deletions and amplifications. The number of genes altered by major copy number changes—deletion of all copies or amplification of at least twelve copies per cell—averaged thirteen per tumor. These data were integrated with previous mutation analysis of the Reference Sequence genes in these same tumor types to identify genes and cellular pathways affected by both copy number changes and point alterations. Pathways enriched for genetic alterations include those controlling cell adhesion, intracellular signaling, DNA topological change, and cell cycle control. These analysis provide an integrated view of copy number and sequencing alterations on a genome-wide scale and identify genes and pathways that are useful for cancer diagnosis and therapy.
摘要翻译： 使用可以可靠地检测纯合缺失和扩增的方法对乳腺和结肠直肠肿瘤的拷贝数变化进行全基因组分析。 通过主要拷贝数变化改变的基因数量 - 全部拷贝的缺失或每个细胞至少12个拷贝的扩增，平均每个肿瘤13个。 这些数据与以前相同肿瘤类型的参考序列基因的突变分析结合起来，以鉴定受拷贝数变化和点变化影响的基因和细胞途径。 富含遗传改变的途径包括控制细胞粘附，细胞内信号转导，DNA拓扑变化和细胞周期控制的途径。 这些分析提供了在全基因组范围内的拷贝数和测序改变的综合视图，并确定了可用于癌症诊断和治疗的基因和途径。
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公开(公告)号：US5695937A
公开(公告)日：1997-12-09
申请号：US527154
申请日：1995-09-12
CPC分类号： C12N15/1096 , C12Q1/6809 , C12Q1/6869
摘要： Serial analysis of gene expression, SAGE, a method for the rapid quantitative and qualitative analysis of transcripts is provided. Short defined sequence tags corresponding to expressed genes are isolated and analyzed. Sequencing of over 1,000 defined tags in a short period of time (e.g., hours) reveals a gene expression pattern characteristic of the function of a cell or tissue. Moreover, SAGE is useful as a gene discovery tool for the identification and isolation of novel sequence tags corresponding to novel transcripts and genes.
摘要翻译： 提供基因表达的串行分析，SAGE，一种用于快速定量和定性分析转录本的方法。 分离并分析与表达基因相对应的短定义序列标签。 在短时间（例如，小时）内测定超过1,000个定义的标签显示了细胞或组织功能特征的基因表达模式。 此外，SAGE可用作用于鉴定和分离对应于新转录物和基因的新序列标签的基因发现工具。
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公开(公告)号：US20120034318A1
公开(公告)日：2012-02-09
申请号：US13254610
申请日：2010-03-05
申请人： Bert Vogelstein , Kenneth W. Kinzler , D. Williams Parsons , Sian Jones , Scott Kern , Ralph Hruban , James R. Eshleman , Michael Goggins , Alison Klein , Manuel Hidalgo , Victor E. Velculescu
发明人： Bert Vogelstein , Kenneth W. Kinzler , D. Williams Parsons , Sian Jones , Scott Kern , Ralph Hruban , James R. Eshleman , Michael Goggins , Alison Klein , Manuel Hidalgo , Victor E. Velculescu
IPC分类号： A61K33/24 , A61P35/00 , C40B20/08 , G01N33/577 , G01N33/566 , C12Q1/68
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.
摘要翻译： 本发明提供了一种检测胰腺癌患者和具有胰腺癌家族史的个体中PALB2基因突变的方法。 还提供了用于诊断患有胰腺癌的倾向，用于预测患者对胰腺癌治疗的反应以及用于治疗患者胰腺癌的方法，其基于在患者体内PALB2突变或异常PALB2基因表达的存在。
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公开(公告)号：US20110033466A1
公开(公告)日：2011-02-10
申请号：US12858717
申请日：2010-08-18
IPC分类号： C12Q1/68 , C07H21/00 , C12N5/071 , C12N15/00 , A61K31/7088 , A61K39/395 , A61P35/00 , A61P43/00
CPC分类号： C12Q1/6886 , C12Q2600/136
摘要： Global gene expression patterns have been characterized in normal and cancerous human cells using serial analysis of gene expression (SAGE). Cancer cell-specific, cell-type specific, and ubiquitously expressed genes have been identified. This information can be used to provide combinations of cell type- and cancer-specific gene probes, as well as methods of using these probes to identify particular cell types, screen for useful drugs, reduce cancer-specific gene expression, standardize gene expression, and restore function to a diseased cell or tissue.
摘要翻译： 使用基因表达（SAGE）的连续分析，在正常和癌性人类细胞中表征全球基因表达模式。 已经鉴定了癌细胞特异性，细胞型特异性和普遍表达的基因。 该信息可用于提供细胞类型和癌症特异性基因探针的组合，以及使用这些探针来鉴定特定细胞类型，筛选有用药物，降低癌症特异性基因表达，标准化基因表达的方法，以及 恢复功能到病变细胞或组织。
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公开(公告)号：US06383743B1
公开(公告)日：2002-05-07
申请号：US09107228
申请日：1998-06-30
IPC分类号： C12Q168
CPC分类号： C12N15/1096 , C12Q1/6809 , C12Q1/6869 , C12Q2539/103
摘要： Serial analysis of gene expression, SAGE, a method for the rapid quantitative and qualitative analysis of transcripts is provided. Short defined sequence tags corresponding to expressed genes are isolated and analyzed. Sequencing of over 1,000 defined tags in a short period of time (e.g., hours) reveals a gene expression pattern characteristic of the function of a cell or tissue. Moreover, SAGE is useful as a gene discovery tool for the identification and isolation of novel sequence tags corresponding to novel transcripts and genes.
摘要翻译： 提供基因表达的串行分析，SAGE，一种用于快速定量和定性分析转录本的方法。 分离并分析与表达基因相对应的短定义序列标签。 在短时间（例如，小时）内测定超过1,000个定义的标签显示了细胞或组织功能特征的基因表达模式。 此外，SAGE可用作用于鉴定和分离对应于新转录物和基因的新序列标签的基因发现工具。
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公开(公告)号：US09115403B2
公开(公告)日：2015-08-25
申请号：US13254610
申请日：2010-03-05
申请人： Bert Vogelstein , Kenneth W. Kinzler , D. Williams Parsons , Sian Jones , Scott Kern , Ralph Hruban , James R. Eshleman , Michael Goggins , Alison Klein , Manuel Hidalgo , Victor E. Velculescu
发明人： Bert Vogelstein , Kenneth W. Kinzler , D. Williams Parsons , Sian Jones , Scott Kern , Ralph Hruban , James R. Eshleman , Michael Goggins , Alison Klein , Manuel Hidalgo , Victor E. Velculescu
IPC分类号： C12Q1/68 , C12P19/34 , A61P35/00 , G01N33/574 , C07H21/04
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.
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公开(公告)号：US09315868B2
公开(公告)日：2016-04-19
申请号：US13254610
申请日：2010-03-05
申请人： Bert Vogelstein , Kenneth W. Kinzler , D. Williams Parsons , Sian Jones , Scott Kern , Ralph Hruban , James R. Eshleman , Michael Goggins , Alison Klein , Manuel Hidalgo , Victor E. Velculescu
发明人： Bert Vogelstein , Kenneth W. Kinzler , D. Williams Parsons , Sian Jones , Scott Kern , Ralph Hruban , James R. Eshleman , Michael Goggins , Alison Klein , Manuel Hidalgo , Victor E. Velculescu
IPC分类号： C12Q1/68 , C12P19/34 , A61P35/00 , G01N33/574 , C07H21/04
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.
摘要翻译： 本发明提供了一种检测胰腺癌患者和具有胰腺癌家族史的个体中PALB2基因突变的方法。 还提供了用于诊断患有胰腺癌的倾向，用于预测患者对胰腺癌治疗的反应以及用于治疗患者胰腺癌的方法，其基于在患者体内PALB2突变或异常PALB2基因表达的存在。
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公开(公告)号：US06498013B1
公开(公告)日：2002-12-24
申请号：US09916228
申请日：2001-07-27
IPC分类号： C12Q168
CPC分类号： C12Q1/6809 , C12Q2525/191 , C12Q2521/501 , C12Q2521/313 , C12Q2521/301
摘要： Serial analysis of gene expression, SAGE, a method for the rapid quantitative and qualitative analysis of transcripts, has been improved to provide more genetic information about each analyzed transcript by use of MmeI restriction endonuclease. In SAGE, defined sequence tags corresponding to expressed genes are isolated and analyzed. Sequencing of over 1,000 defined tags in a short period of time (e.g., hours) reveals a gene expression pattern characteristic of the function of a cell or tissue. Moreover, SAGE is useful as a gene discovery tool for the identification and isolation of novel sequence tags corresponding to novel transcripts and genes.
摘要翻译： 基因表达的序列分析，SAGE，用于快速定量和定性分析转录物的方法已被改进，以通过使用MmeI限制性内切核酸酶提供关于每个分析的转录物的更多遗传信息。 在SAGE中，分离和分析与表达基因相对应的定义的序列标签。 在短时间（例如，小时）内测定超过1,000个定义的标签显示了细胞或组织功能特征的基因表达模式。 此外，SAGE可用作用于鉴定和分离对应于新转录物和基因的新序列标签的基因发现工具。
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公开(公告)号：US20090186339A1
公开(公告)日：2009-07-23
申请号：US11057194
申请日：2005-02-15
CPC分类号： C12Q1/6886 , C12Q2600/136
摘要： Global gene expression patterns have been characterized in normal and cancerous human cells using serial analysis of gene expression (SAGE). Cancer cell-specific, cell-type specific, and ubiquitously expressed genes have been identified. This information can be used to provide combinations of cell type- and cancer-specific gene probes, as well as methods of using these probes to identify particular cell types, screen for useful drugs, reduce cancer-specific gene expression, standardize gene expression, and restore function to a diseased cell or tissue.
摘要翻译： 使用基因表达（SAGE）的连续分析，在正常和癌性人类细胞中表征全球基因表达模式。 已经鉴定了癌细胞特异性，细胞型特异性和普遍表达的基因。 该信息可用于提供细胞类型和癌症特异性基因探针的组合，以及使用这些探针来鉴定特定细胞类型，筛选有用药物，降低癌症特异性基因表达，标准化基因表达的方法，以及 恢复功能到病变细胞或组织。
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