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    • 1. 发明申请
    • Integrated Analyses of Breast and Colorectal Cancers
    • 乳腺癌和结肠直肠癌综合分析
    • US20100136560A1
    • 2010-06-03
    • US12619726
    • 2009-11-17
    • Bert VogelsteinKenneth W. KinzlerRebecca J. LearyVictor E. Velculescu
    • Bert VogelsteinKenneth W. KinzlerRebecca J. LearyVictor E. Velculescu
    • C12Q1/68
    • C12Q1/6886C12Q2600/156
    • 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.
    • 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。
    • 2. 发明授权
    • Integrated analyses of breast and colorectal cancers
    • 乳腺癌和结肠直肠癌的综合分析
    • US08709723B2
    • 2014-04-29
    • US13461268
    • 2012-05-01
    • Bert VogelsteinKenneth W. KinzlerRebecca J. LearyVictor E. Velculescu
    • Bert VogelsteinKenneth W. KinzlerRebecca J. LearyVictor E. Velculescu
    • C12Q1/66C12P19/34C07H21/02
    • C12Q1/6886C12Q2600/156
    • 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.
    • 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。