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    Chromosome 17P-linked prostate cancer susceptibility gene
    1.
    发明授权
    Chromosome 17P-linked prostate cancer susceptibility gene 失效
    染色体17P连接前列腺癌易感基因

    公开(公告)号：US06844189B1

    公开(公告)日：2005-01-18

    申请号：US09434382

    申请日：1999-11-05

    申请人： Sean V. Tavtigian ,  David H.-F. Teng ,  Jacques Simard ,  Johanna M. Rommens ,  Lisa A. Cannon Albright ,  Susan L. Neuhausen

    发明人： Sean V. Tavtigian ,  David H.-F. Teng ,  Jacques Simard ,  Johanna M. Rommens ,  Lisa A. Cannon Albright ,  Susan L. Neuhausen

    IPC分类号： G01N33/50 ,  A61K31/713 ,  A61K38/00 ,  A61K39/395 ,  A61K45/00 ,  A61K48/00 ,  A61P35/00 ,  C07H21/04 ,  C07K14/435 ,  C07K14/47 ,  C07K16/18 ,  C07K16/30 ,  C07K16/44 ,  C12N1/15 ,  C12N1/19 ,  C12N1/21 ,  C12N5/10 ,  C12N9/64 ,  C12N15/09 ,  C12N15/12 ,  C12P21/02 ,  C12P21/04 ,  C12Q1/68 ,  G01N33/15 ,  G01N33/53 ,  G01N33/566 ,  G01N33/577 ,  G01N37/00 ,  C12N5/16 ,  C12N15/63

    CPC分类号： C07K14/4748 ,  A61K38/00 ,  C07K14/47 ,  C07K16/3069

    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. Finally, the invention relates to the screening of the HPC2 gene for mutations, which are useful for diagnosing the predisposition to prostate cancer.

    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。 本发明还涉及携带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。 最后，本发明涉及用于突变的HPC2基因的筛选，其可用于诊断前列腺癌的倾向。

    Chromosome 17p-linked prostate cancer susceptibility gene and a paralog and orthologous genes
    2.
    发明授权
    Chromosome 17p-linked prostate cancer susceptibility gene and a paralog and orthologous genes 失效
    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：US06333403B1

    公开(公告)日：2001-12-25

    申请号：US09564805

    申请日：2000-05-05

    申请人： Sean V. Tavtigian ,  David H. F. Teng ,  Jacques Simard ,  Johanna M. Rommens

    发明人： Sean V. Tavtigian ,  David H. F. Teng ,  Jacques Simard ,  Johanna M. Rommens

    IPC分类号： C07H2104

    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。

    Chromosome 13-linked breast cancer susceptibility gene
    4.
    发明授权
    Chromosome 13-linked breast cancer susceptibility gene 失效

    公开(公告)号：US6124104A

    公开(公告)日：2000-09-26

    申请号：US44908

    申请日：1998-03-20

    申请人： Sean V. Tavtigian ,  Alexander Kamb ,  Jacques Simard ,  Fergus Couch ,  Johanna M. Rommens ,  Barbara L. Weber

    发明人： Sean V. Tavtigian ,  Alexander Kamb ,  Jacques Simard ,  Fergus Couch ,  Johanna M. Rommens ,  Barbara L. Weber

    IPC分类号： A61K48/00 ,  C07K14/47 ,  C12N5/08 ,  C12N15/09

    CPC分类号： C07K14/4703 ,  A61K48/00 ,  Y10S530/828

    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 breast cancer predisposing gene (BRCA2), some mutant alleles of which cause susceptibility to cancer, in particular breast cancer. More specifically, the invention relates to germline mutations in the BRCA2 gene and their use in the diagnosis of predisposition to breast cancer. The present invention further relates to somatic mutations in the BRCA2 gene in human breast cancer and their use in the diagnosis and prognosis of human breast cancer. Additionally, the invention relates to somatic mutations in the BRCA2 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 BRCA2 gene, including gene therapy, protein replacement therapy and protein mimetics. The invention further relates to the screening of drugs for cancer therapy. Finally, the invention relates to the screening of the BRCA2 gene for mutations, which are useful for diagnosing the predisposition to breast cancer.

    Chromosome 13-linked breast cancer susceptibility gene
    5.
    发明授权
    Chromosome 13-linked breast cancer susceptibility gene 失效
    染色体13连锁乳腺癌易感基因

    公开(公告)号：US6033857A

    公开(公告)日：2000-03-07

    申请号：US44946

    申请日：1998-03-20

    申请人： Sean V. Tavtigian ,  Alexander Kamb ,  Jacques Simard ,  Fergus Couch ,  Johanna M. Rommens ,  Barbara L. Weber

    发明人： Sean V. Tavtigian ,  Alexander Kamb ,  Jacques Simard ,  Fergus Couch ,  Johanna M. Rommens ,  Barbara L. Weber

    IPC分类号： A61K48/00 ,  C07K14/47 ,  C12N5/08 ,  C07H21/00 ,  C12N15/09 ,  C12N15/11 ,  C12N15/63 ,  C12N15/79

    CPC分类号： C07K14/4703 ,  A61K48/00 ,  Y10S530/828

    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 breast cancer predisposing gene (BRCA2), some mutant alleles of which cause susceptibility to cancer, in particular breast cancer. More specifically, the invention relates to germline mutations in the BRCA2 gene and their use in the diagnosis of predisposition to breast cancer. The present invention further relates to somatic mutations in the BRCA2 gene in human breast cancer and their use in the diagnosis and prognosis of human breast cancer. Additionally, the invention relates to somatic mutations in the BRCA2 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 BRCA2 gene, including gene therapy, protein replacement therapy and protein mimetics. The invention further relates to the screening of drugs for cancer therapy. Finally, the invention relates to the screening of the BRCA2 gene for mutations, which are useful for diagnosing the predisposition to breast cancer.

    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乳腺癌易感基因（BRCA2）的一些突变等位基因，特别是乳腺癌的突变等位基因的方法和材料。 更具体地，本发明涉及BRCA2基因中的种系突变及其在诊断乳腺癌易感性中的用途。 本发明还涉及人乳腺癌中BRCA2基因的体细胞突变及其在人乳腺癌诊断和预后中的应用。 另外本发明涉及其他人类癌症中BRCA2基因的体细胞突变及其在人类癌症诊断和预后中的应用。 本发明还涉及在BRCA2基因中具有突变的人类癌症的治疗，包括基因治疗，蛋白质替代疗法和蛋白质模拟物。 本发明还涉及用于癌症治疗的药物的筛选。 最后，本发明涉及用于突变的BRCA2基因的筛选，其可用于诊断乳腺癌的倾向。

    Human CDC14A gene
    7.
    发明授权
    Human CDC14A gene 失效
    人CDC14A基因

    公开(公告)号：US06331614B1

    公开(公告)日：2001-12-18

    申请号：US09468872

    申请日：1999-12-22

    申请人： Alexander K. C. Wong ,  David H. -F. Teng ,  Sean V. Tavtigian

    发明人： Alexander K. C. Wong ,  David H. -F. Teng ,  Sean V. Tavtigian

    IPC分类号： C07H2104

    CPC分类号： C12N9/16 ,  C12Y301/03048

    摘要： The present invention relates generally to the field of human genetics. Specifically, the present invention relates to human CDC14A gene which has been found to be mutated in certain tumor cell lines. More specifically, the invention relates to a novel sequence for the human CDC14A gene. The present invention further relates to somatic mutations in the CDC14A gene in human cancer and their use in the diagnosis and prognosis of human cancer. The invention also relates to the therapy of human cancers which have a mutation in the CDC14A gene, including gene therapy, protein replacement therapy and protein mimetics. The invention further relates to the screening of drugs for cancer therapy. Finally, the invention relates to the screening of the CDC14A gene for mutations, which are useful for diagnosing the predisposition to cancer.

    摘要翻译： 本发明一般涉及人类遗传学领域。 具体地说，本发明涉及已被发现在某些肿瘤细胞系中突变的人CDC14A基因。 更具体地，本发明涉及人CDC14A基因的新序列。 本发明还涉及人类癌症中CDC14A基因中的体细胞突变及其在人类癌症的诊断和预后中的用途。 本发明还涉及在CDC14A基因中具有突变的人类癌症的治疗，包括基因治疗，蛋白质替代疗法和蛋白质模拟物。 本发明还涉及用于癌症治疗的药物的筛选。 最后，本发明涉及用于突变的CDC14A基因的筛选，其可用于诊断癌症的易感性。

    Carboxy-terminal BRCA1 interacting protein
    10.
    发明授权
    Carboxy-terminal BRCA1 interacting protein 失效
    羧基末端BRCA1相互作用蛋白

    公开(公告)号：US06030832A

    公开(公告)日：2000-02-29

    申请号：US975703

    申请日：1997-11-21

    申请人： Alexander K. C. Wong ,  Paul L. Bartel ,  David H. -F. Teng ,  Sean V. Tavtigian

    发明人： Alexander K. C. Wong ,  Paul L. Bartel ,  David H. -F. Teng ,  Sean V. Tavtigian

    IPC分类号： A61K38/00 ,  C07K14/47 ,  C12N5/08 ,  C12Q1/68 ,  C12N15/00 ,  C07H21/02 ,  C12N1/20 ,  C12P21/06

    CPC分类号： C07K14/4702 ,  C12Q1/6886 ,  A01K2217/05 ,  A61K38/00 ,  C07K2319/00 ,  C12Q2600/136

    摘要： Recent evidence indicates that the carboxy-terminal region of the tumor suppressor protein BRCA1 is a functionally significant domain. Using the yeast two-hybrid assay and an in vitro biochemical assay, it is here shown that a protein, B112, interacts specifically with the carboxy-terminal segment of human BRCA1 from residue 1602 to 1863. A germ line truncation mutation, 1853ter, that removes the last 11 amino acids from the carboxy-terminus of BRCA1 abolishes not only the transcription activation function, but also binding to B112. The B112 protein is apparently the same as an uncharacterized protein known as CtIP, the sequence of which was previously deposited in GenBank. Screenings of a panel of 92 tumor cell lines for mutations in the B112/CtIP sequence have identified a number of missense variants, including a non-conserved lysine to glutamic acid change at codon 337 in the pancreatic cancer line, BxPC3. Taken together, these results indicate that B112/CtIP participates in a common biochemical pathway as BRCA1 and that the interaction of these two proteins may be required for the tumor suppressor function of BRCA1.

    摘要翻译： 最近的证据表明肿瘤抑制蛋白BRCA1的羧基末端区域是功能上重要的结构域。 使用酵母双杂交测定和体外生物化学测定，这里显示蛋白质B112与来自残基1602至1863的人BRCA1的羧基末端特异性相互作用。胚系截短突变1853ter，即 从BR​​CA1的羧基末端去除最后11个氨基酸不仅消除了转录激活功能，而且还与B112结合。 B112蛋白质显然与称为CtIP的未表征的蛋白质相同，其序列先前存放在GenBank中。 在B112 / CtIP序列中突变的92个肿瘤细胞系的一组的筛选已经鉴定了许多错义变体，包括在胰腺癌细胞系BxPC3中密码子337处的非保守的赖氨酸与谷氨酸的变化。 总之，这些结果表明，B112 / CtIP参与了作为BRCA1的常见生物化学途径，并且这两种蛋白质的相互作用可能是BRCA1的肿瘤抑制功能所必需的。