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    17q-linked breast and ovarian cancer susceptibility gene
    1.
    发明授权
    17q-linked breast and ovarian cancer susceptibility gene 失效
    17q连锁乳腺癌和卵巢癌易感基因

    公开(公告)号：US6162897A

    公开(公告)日：2000-12-19

    申请号：US850727

    申请日：1997-05-02

    申请人： Mark H. Skolnick ,  David E. Goldgar ,  Yoshio Miki ,  Jeff Swenson ,  Alexander Kamb ,  Keith D. Harshman ,  Donna M. Shattuck-Eidens ,  Sean V. Tavtigian ,  Roger W. Wiseman ,  P. Andrew Futreal

    发明人： Mark H. Skolnick ,  David E. Goldgar ,  Yoshio Miki ,  Jeff Swenson ,  Alexander Kamb ,  Keith D. Harshman ,  Donna M. Shattuck-Eidens ,  Sean V. Tavtigian ,  Roger W. Wiseman ,  P. Andrew Futreal

    IPC分类号： A61K38/00 ,  A61K48/00 ,  C07K14/47 ,  C07K14/82 ,  C12N15/12 ,  C12Q1/68 ,  C07K1/00 ,  A01N37/18 ,  A61K39/395 ,  G01N33/53

    CPC分类号： C07K14/4703 ,  A01K2217/05 ,  A61K38/00 ,  A61K48/00 ,  C07K14/4702 ,  C07K14/82 ,  C12Q1/6886 ,  C12Q2600/136 ,  C12Q2600/172

    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 and ovarian cancer predisposing gene (BRCA1), some mutant alleles of which cause susceptibility to cancer, in particular breast and ovarian cancer. More specifically, the invention relates to germline mutations in the BRCA1 gene and their use in the diagnosis of predisposition to breast and ovarian cancer. The present invention further relates to somatic mutations in the BRCA1 gene in human breast and ovarian cancer and their use in the diagnosis and prognosis of human breast and ovarian cancer. Additionally, the invention relates to somatic mutations in the BRCA1 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 BRCA1 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 BRCA1 gene for mutations, which are useful for diagnosing the predisposition to breast and ovarian 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和卵巢癌易感基因（BRCA1）的一些突变等位基因，特别是乳腺癌和卵巢癌的易感性的突变等位基因的方法和材料。 更具体地，本发明涉及BRCA1基因中的种系突变及其在诊断乳腺癌和卵巢癌易感性中的用途。 本发明还涉及人乳腺癌和卵巢癌中BRCA1基因的体细胞突变及其在人乳腺癌和卵巢癌诊断和预后中的应用。 另外本发明涉及其他人类癌症中BRCA1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BRCA1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BRCA1基因的筛选，其可用于诊断乳腺和卵巢癌的易感性。

    170-linked breast and ovarian cancer susceptibility gene
    3.
    发明授权
    170-linked breast and ovarian cancer susceptibility gene 失效
    170连锁的乳腺癌和卵巢癌易感基因

    公开(公告)号：US5753441A

    公开(公告)日：1998-05-19

    申请号：US488011

    申请日：1996-01-05

    申请人： Mark H. Skolnick ,  David E. Goldgar ,  Yoshio Miki ,  Jeff Swenson ,  Alexander Kamb ,  Keith D. Harshman ,  Donna M. Shattuck-Eidens ,  Sean V. Tavtigian ,  Roger W. Wiseman ,  P. Andrew Futreal

    发明人： Mark H. Skolnick ,  David E. Goldgar ,  Yoshio Miki ,  Jeff Swenson ,  Alexander Kamb ,  Keith D. Harshman ,  Donna M. Shattuck-Eidens ,  Sean V. Tavtigian ,  Roger W. Wiseman ,  P. Andrew Futreal

    IPC分类号： A61K38/00 ,  A61K48/00 ,  C07K14/47 ,  C07K14/82 ,  C12Q1/68 ,  C07H21/02 ,  C07H21/04 ,  C12P19/34

    CPC分类号： C07K14/82 ,  C07K14/4703 ,  C12Q1/6886 ,  A01K2217/05 ,  A61K38/00 ,  A61K48/00 ,  C12Q2600/156 ,  C12Q2600/172

    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 and ovarian cancer predisposing gene (BRCA1), some mutant alleles of which cause susceptibility to cancer, in particular breast and ovarian cancer. More specifically, the invention relates to germline mutations in the BRCA1 gene and their use in the diagnosis of predisposition to breast and ovarian cancer. The present invention further relates to somatic mutations in the BRCA1 gene in human breast and ovarian cancer and their use in the diagnosis and prognosis of human breast and ovarian cancer. Additionally, the invention relates to somatic mutations in the BRCA1 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 BRCA1 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 BRCA1 gene for mutations, which are useful for diagnosing the predisposition to breast and ovarian 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和卵巢癌易感基因（BRCA1）的一些突变等位基因，特别是乳腺癌和卵巢癌的易感性的突变等位基因的方法和材料。 更具体地，本发明涉及BRCA1基因中的种系突变及其在诊断乳腺癌和卵巢癌易感性中的用途。 本发明还涉及人乳腺癌和卵巢癌中BRCA1基因的体细胞突变及其在人乳腺癌和卵巢癌诊断和预后中的应用。 另外本发明涉及其他人类癌症中BRCA1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BRCA1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BRCA1基因的筛选，其可用于诊断乳腺和卵巢癌的易感性。

    17Q-linked breast and ovarian cancer susceptibility gene
    4.
    发明授权
    17Q-linked breast and ovarian cancer susceptibility gene 失效
    17Q型乳腺癌和卵巢癌易感基因

    公开(公告)号：US5747282A

    公开(公告)日：1998-05-05

    申请号：US483554

    申请日：1995-06-07

    申请人： Mark H. Skolnick ,  David E. Goldgar ,  Yoshio Miki ,  Jeff Swenson ,  Alexander Kamb ,  Keith D. Harshman ,  Donna M. Shattuck-Eidens ,  Sean V. Tavtigian ,  Roger W. Wiseman ,  P. Andrew Futreal

    发明人： Mark H. Skolnick ,  David E. Goldgar ,  Yoshio Miki ,  Jeff Swenson ,  Alexander Kamb ,  Keith D. Harshman ,  Donna M. Shattuck-Eidens ,  Sean V. Tavtigian ,  Roger W. Wiseman ,  P. Andrew Futreal

    IPC分类号： A61K38/00 ,  A61K48/00 ,  C07K14/47 ,  C07K14/82 ,  C12N15/12 ,  C12Q1/68 ,  C12P21/06 ,  C07H21/04

    CPC分类号： C07K14/4703 ,  C07K14/4702 ,  C07K14/82 ,  C12Q1/6886 ,  A01K2217/05 ,  A61K38/00 ,  A61K48/00 ,  C12Q2600/136 ,  C12Q2600/172

    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 and ovarian cancer predisposing gene (BRCA1), some mutant alleles of which cause susceptibility to cancer, in particular breast and ovarian cancer. More specifically, the invention relates to germline mutations in the BRCA1 gene and their use in the diagnosis of predisposition to breast and ovarian cancer. The present invention further relates to somatic mutations in the BRCA1 gene in human breast and ovarian cancer and their use in the diagnosis and prognosis of human breast and ovarian cancer. Additionally, the invention relates to somatic mutations in the BRCA1 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 BRCA1 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 BRCA1 gene for mutations, which are useful for diagnosing the predisposition to breast and ovarian 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和卵巢癌易感基因（BRCA1）的一些突变等位基因，特别是乳腺癌和卵巢癌的易感性的突变等位基因的方法和材料。 更具体地，本发明涉及BRCA1基因中的种系突变及其在诊断乳腺癌和卵巢癌易感性中的用途。 本发明还涉及人乳腺癌和卵巢癌中BRCA1基因的体细胞突变及其在人乳腺癌和卵巢癌诊断和预后中的应用。 另外本发明涉及其他人类癌症中BRCA1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BRCA1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BRCA1基因的筛选，其可用于诊断乳腺和卵巢癌的易感性。

    Methods for detecting predisposition to cancer at the MTS gene
    6.
    发明授权
    Methods for detecting predisposition to cancer at the MTS gene 失效
    检测MTS基因癌症易感性的方法

    公开(公告)号：US5989815A

    公开(公告)日：1999-11-23

    申请号：US848251

    申请日：1997-04-29

    申请人： Mark H. Skolnick ,  Lisa A. Cannon-Albright ,  Alexander Kamb

    发明人： Mark H. Skolnick ,  Lisa A. Cannon-Albright ,  Alexander Kamb

    IPC分类号： A01N61/00 ,  C07H21/02 ,  C12Q1/68

    CPC分类号： A01N61/00 ,  C07H21/02 ,  C12Q1/68

    摘要： The present invention relates to somatic mutations in the Multiple Tumor Suppressor (MTS) gene in human cancers and their use in the diagnosis and prognosis of human cancer. The invention further relates to germ line mutations in the MTS gene and their use in the diagnosis of predisposition to melanoma, leukemia, astrocytoma, glioblastoma, lymphoma, glioma, Hodgkin's lymphoma, CLL, and cancers of the pancreas, breast, thyroid, ovary, uterus, testis, kidney, stomach and rectum. The invention also relates to the therapy of human cancers which have a mutation in the MTS gene, including gene therapy, protein replacement therapy and protein mimetics. Finally, the invention relates to the screening of drugs for cancer therapy.

    摘要翻译： 本发明涉及人类癌症中多重肿瘤抑制因子（MTS）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MTS基因中的种系突变及其在诊断黑素瘤，白血病，星形细胞瘤，成胶质细胞瘤，淋巴瘤，胶质瘤，霍奇金淋巴瘤，CLL和胰腺，乳腺，甲状腺，卵巢癌， 子宫，睾丸，肾，胃和直肠。 本发明还涉及在MTS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。 最后，本发明涉及用于癌症治疗的药物的筛选。

    Systems and methods for communicating between a decision-support system and one or more mobile information devices
    9.
    发明授权
    Systems and methods for communicating between a decision-support system and one or more mobile information devices 有权
    用于在决策支持系统与一个或多个移动信息设备之间通信的系统和方法

    公开(公告)号：US07447643B1

    公开(公告)日：2008-11-04

    申请号：US09666445

    申请日：2000-09-21

    申请人： Jonathan B. Olson ,  Mark H. Skolnick ,  Stanley L. Pestotnik ,  William F. Harty, III ,  Richard J. Boekweg ,  Bo Lu ,  Merle A. Sande

    发明人： Jonathan B. Olson ,  Mark H. Skolnick ,  Stanley L. Pestotnik ,  William F. Harty, III ,  Richard J. Boekweg ,  Bo Lu ,  Merle A. Sande

    IPC分类号： G06Q10/00

    CPC分类号： G06Q50/22 ,  G06F19/00 ,  G06F19/321 ,  G06F19/324 ,  G06F19/3418 ,  G06Q10/10 ,  G16H50/20

    摘要： A decision-support system for providing a clinician with real-time patient data specific to each patient that the clinician is to examine in a defined time period. The system including a decision-support module that is configured to generate decision-supported patient data that is specific to each patient that a clinician is to examine in a defined time period. The decision-support module including an inference engine that communicates with a knowledge module and a patient module to generate the decision-supported patient data. In real-time communication with the decision-support module is a user module that is adapted to present the decision-supported patient data in real-time to the clinician in a configuration that assists the clinician in treating each patient. The user module further allowing the clinician to changes elements of the decision-supported patient data and receive new recommendations and medical care suggestions in real-time from the decision-support module.

    摘要翻译： 一种决策支持系统，用于向临床医生提供特定于临床医生在规定时间段内检查的每个患者的实时患者数据。 所述系统包括决策支持模块，所述决策支持模块被配置为生成决策支持的患者数据，所述决策支持的患者数据是特定于临床医生在规定的时间段内检查的每个患者。 所述决策支持模块包括与知识模块和患者模块进行通信以产生所述决策支持的患者数据的推理机。 与决策支持模块的实时通信是一种用户模块，其适于以协助临床医生治疗每个患者的配置实时向临床医生呈现决策支持的患者数据。 用户模块还允许临床医生改变决策支持的患者数据的要素，并从决策支持模块实时接收新的建议和医疗建议。