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1.发明申请Chromosome 17p-linked prostrate cancer susceptibility gene and a paralog and orthologous genes 审中-公开染色体17p连接的前列腺癌易感基因和旁系同源和直系同源基因公开(公告)号：US20030044959A1
公开(公告)日：2003-03-06
申请号：US09988626
申请日：2001-11-20
IPC分类号： C12N009/64 , C12P021/04 , C07K016/30
CPC分类号： C07K14/47 , A61K38/00 , C07K14/4748 , C07K16/3069 , C12Q1/6886 , C12Q2600/136 , C12Q2600/156
摘要： The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human prostate cancer predisposing gene (HPC2), some alleles of which cause susceptibility to cancer, in particular prostate cancer. More specifically, the present invention relates to germline mutations in the HPC2 gene and their use in the diagnosis of predisposition to prostate cancer. The invention also relates to presymptomatic therapy of individuals who carry deleterious alleles of the HPC2 gene. The invention farther relates to somatic mutations in the HPC2 gene in human prostate cancer and their use in the diagnosis and prognosis of human prostate cancer. Additionally, the invention relates to somatic mutations in the HPC2 gene in other human cancers and their use in the diagnosis and prognosis of human cancers. The invention also relates to the therapy of human cancers which have a mutation in the HPC2 gene, (including gene therapy, protein replacement therapy, protein mimetics, and inhibitors). The invention further relates to the screening of drugs for cancer therapy. The invention also relates to the screening of the HPC2 gene for mutations, which are useful for diagnosing the predisposition to prostate cancer. In addition, the invention relates to a paralog of human HPC2, the paralog being named ELAC1, and to orthologs of human HPC2, these being mouse Elac2, chimpanzee Elac2 and gorilla Elac2.
摘要翻译： 本发明一般涉及人类遗传学领域。 具体地，本发明涉及用于分离和检测人前列腺癌易感基因（HPC2）的方法和材料，其一些等位基因导致癌症易感性，特别是前列腺癌。 更具体地，本发明涉及HPC2基因中的种系突变及其在诊断前列腺癌易感性中的用途。 本发明还涉及带有HPC2基因有害等位基因的个体的症状前症状。 本发明进一步涉及人前列腺癌中HPC2基因的体细胞突变及其在人前列腺癌诊断和预后中的应用。 此外，本发明涉及其他人类癌症中HPC2基因中的体细胞突变及其在人类癌症的诊断和预后中的应用。 本发明还涉及在HPC2基因中具有突变（包括基因治疗，蛋白质替代疗法，蛋白质模拟物和抑制剂）的人类癌症的治疗。 本发明还涉及用于癌症治疗的药物的筛选。 本发明还涉及用于突变的HPC2基因的筛选，其可用于诊断前列腺癌的倾向。 此外，本发明涉及人HPC2，旁系同源异型片段命名为ELAC1的旁系同源物，以及人HPC2的直向同源物，这些是人ElC2，黑猩猩Elac2和大猩猩Elac2。
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2.发明申请Chromosome 17p-linked prostrate cancer susceptibility gene and a paralog and orthologous genes 审中-公开染色体17p连接的前列腺癌易感基因和旁系同源和直系同源基因公开(公告)号：US20030120052A1
公开(公告)日：2003-06-26
申请号：US09988686
申请日：2001-11-20
IPC分类号： C07H021/04 , C12N009/64 , C07K014/435
CPC分类号： C07K14/47 , A61K38/00 , C07K14/4748 , C07K16/3069 , C12Q1/6886 , C12Q2600/136 , C12Q2600/156
摘要： The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human prostate cancer predisposing gene (HPC2), some alleles of which cause susceptibility to cancer, in particular prostate cancer. More specifically, the present invention relates to germline mutations in the HPC2 gene and their use in the diagnosis of predisposition to prostate cancer. The invention also relates to presymptomatic therapy of individuals who carry deleterious alleles of the HPC2 gene. The invention further relates to somatic mutations in the HPC2 gene in human prostate cancer and their use in the diagnosis and prognosis of human prostate cancer. Additionally, the invention relates to somatic mutations in the HPC2 gene in other human cancers and their use in the diagnosis and prognosis of human cancers. The invention also relates to the therapy of human cancers which have a mutation in the HPC2 gene, (including gene therapy, protein replacement therapy, protein mimetics, and inhibitors). The invention further relates to the screening of drugs for cancer therapy. The invention also relates to the screening of the HPC2 gene for mutations, which are useful for diagnosing the predisposition to prostate cancer. In addition, the invention relates to a paralog of human HPC2, the paralog being named ELAC1, and to orthologs of human HPC2, these being mouse Elac2, chimpanzee Elac2 and gorilla Elac2.
摘要翻译： 本发明一般涉及人类遗传学领域。 具体地，本发明涉及用于分离和检测人前列腺癌易感基因（HPC2）的方法和材料，其一些等位基因导致癌症易感性，特别是前列腺癌。 更具体地，本发明涉及HPC2基因中的种系突变及其在诊断前列腺癌易感性中的用途。 本发明还涉及带有HPC2基因有害等位基因的个体的症状前症状。 本发明还涉及人前列腺癌中HPC2基因中的体细胞突变及其在人前列腺癌诊断和预后中的应用。 此外，本发明涉及其他人类癌症中HPC2基因中的体细胞突变及其在人类癌症的诊断和预后中的应用。 本发明还涉及在HPC2基因中具有突变（包括基因治疗，蛋白质替代疗法，蛋白质模拟物和抑制剂）的人类癌症的治疗。 本发明还涉及用于癌症治疗的药物的筛选。 本发明还涉及用于突变的HPC2基因的筛选，其可用于诊断前列腺癌的倾向。 此外，本发明涉及人HPC2，旁系同源异型片段命名为ELAC1的旁系同源物，以及人HPC2的直向同源物，这些是人ElC2，黑猩猩Elac2和大猩猩Elac2。
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3.发明申请公开(公告)号：US20030045704A1
公开(公告)日：2003-03-06
申请号：US09988687
申请日：2001-11-20
IPC分类号： C07H021/04 , C12Q001/68
CPC分类号： C07K14/47 , A61K38/00 , C07K14/4748 , C07K16/3069 , C12Q1/6886 , C12Q2600/136 , C12Q2600/156
摘要： The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human prostate cancer predisposing gene (HPC2), some alleles of which cause susceptibility to cancer, in particular prostate cancer. More specifically, the present invention relates to germline mutations in the HPC2 gene and their use in the diagnosis of predisposition to prostate cancer. The invention also relates to presymptomatic therapy of individuals who carry deleterious alleles of the HPC2 gene. The invention further relates to somatic mutations in the HPC2 gene in human prostate cancer and their use in the diagnosis and prognosis of human prostate cancer. Additionally, the invention relates to somatic mutations in the HPC2 gene in other human cancers and their use in the diagnosis and prognosis of human cancers. The invention also relates to the therapy of human cancers which have a mutation in the HPC2 gene, (including gene therapy, protein replacement therapy, protein mimetics, and inhibitors). The invention further relates to the screening of drugs for cancer therapy. The invention also relates to the screening of the HPC2 gene for mutations, which are useful for diagnosing the predisposition to prostate cancer. In addition, the invention relates to a paralog of human HPC2, the paralog being named ELAC1, and to orthologs of human HPC2, these being mouse Elac2, chimpanzee Elac2 and gorilla Elac2.
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