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1. 发明公开

EP0705902A1 17q-Linked breast and ovarian cancer susceptibility gene 失效
标题翻译： 17Q相关的卵巢癌和乳腺癌易感基因
公开(公告)号：EP0705902A1
公开(公告)日：1996-04-10
申请号：EP95305601.7
申请日：1995-08-11
申请人： MYRIAD GENETICS, INC. , THE UNIVERSITY OF UTAH RESEARCH FOUNDATION , THE UNITED STATES OF AMERICA, as represented by the Secretary of the Department of Health and Human Services
发明人： Skolnick, Mark H. , Goldgar, David E. , Miki, Yoshio , Swenson, Jeff , Kamb, Alexander , Harshman, Keith D. , Shattuck-Eidens, Donna M. , Tavtigian, Sean V. , Wiseman, Roger W. , Futreal, P. Andrew
IPC分类号： C12N15/12 , C07K14/82 , C12Q1/68 , G01N33/574 , C12N5/10 , A61K48/00
CPC分类号： C07K14/4703 , A01K2217/05 , A61K38/00 , A61K48/00 , 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.

4. 发明公开

EP0699754A1 Method for diagnosing a predisposition for breast and ovarian cancer 失效
标题翻译：维尔法赫尔·乌克兰和布鲁斯克雷布斯
公开(公告)号：EP0699754A1
公开(公告)日：1996-03-06
申请号：EP95305602.5
申请日：1995-08-11
申请人： MYRIAD GENETICS, INC. , UNIVERSITY OF UTAH RESEARCH FOUNDATION , THE UNITED STATES OF AMERICA, as represented by the Secretary of the Department of Health and Human Services
发明人： Skolnick, Mark H. , Goldgar, David E. , Miki, Yoshio , Swenson, Jeff , Kamb, Alexander , Harshman, Keith D. , Shattuck-Eidens, Donna M. , Tavtigian, Sean V. , Wiseman, Roger W. , Futreal, P.Andrew
IPC分类号： C12N15/12 , C07K14/82 , C12Q1/68 , G01N33/574 , C12N5/10
CPC分类号： C07K14/4703 , A01K2217/05 , A61K38/00 , A61K48/00 , 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.
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基因中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。此外，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。

5. 发明授权

EP0705902B1 17q-Linked breast and ovarian cancer susceptibility gene 失效
标题翻译：核酸探针，其包括17Q相关卵巢癌和乳腺癌易感基因的片段
公开(公告)号：EP0705902B1
公开(公告)日：2001-11-28
申请号：EP95305601.7
申请日：1995-08-11
申请人： MYRIAD GENETICS, INC. , THE UNIVERSITY OF UTAH RESEARCH FOUNDATION , THE UNITED STATES OF AMERICA
发明人： Skolnick, Mark H. , Goldgar, David E. , Miki, Yoshio , Swensen, Jeff , Kamb, Alexander , Harshman, Keith D. , Shattuck-Eidens, Donna M. , Tavtigian, Sean V. , Wiseman, Roger W. , Futreal, P. Andrew
IPC分类号： C07K14/82 , C12Q1/68 , G01N33/574 , C12N5/10 , A61K48/00 , C12N15/12
CPC分类号： C07K14/4703 , A01K2217/05 , A61K38/00 , A61K48/00 , C07K14/82 , C12Q1/6886 , C12Q2600/136 , C12Q2600/172

6. 发明公开

EP2338913A1 Chromosome 13-linked breast cancer susceptibility gene 失效
标题翻译：染色体13连锁的乳腺癌易感基因
公开(公告)号：EP2338913A1
公开(公告)日：2011-06-29
申请号：EP10158057.9
申请日：1996-12-17
申请人： The University of Utah Research Foundation , Endo Recherche Inc. , The Trustees of The University of Pennsylvania , HSC Research and Development Limited Partnership
发明人： Tavtigian, Sean V. , Kamb, Alexander , Simard, Jacques , Couch, Fergus , Rommens, Johanna M. , Weber, Barbara L.
IPC分类号： C07K14/82 , C12Q1/68 , G01N33/53 , A01K67/027
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 ERCA2 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。具体而言，本发明涉及用于分离和检测人乳腺癌易感基因（BRCA2）的方法和材料，其中一些突变等位基因引起对癌症尤其是乳腺癌的易感性。更具体地说，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。本发明进一步涉及人乳腺癌中BRCA2基因的体细胞突变及其在人乳腺癌的诊断和预后中的用途。此外，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的诊断和预后中的用途。本发明还涉及在ERCA2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BRCA2基因突变的筛选，其可用于诊断乳腺癌倾向。

7. 发明授权

EP1260520B1 Chromosome 13-linked breast cancer susceptibility gene 无效
标题翻译：染色体13连锁的乳腺癌易感基因
公开(公告)号：EP1260520B1
公开(公告)日：2014-09-10
申请号：EP02006768.2
申请日：1996-12-17
申请人： The University of Utah Research Foundation , Endo Recherche Inc. , The Trustees of The University of Pennsylvania , HSC Research and Development Limited Partnership
发明人： Tavtigian, Sean V. , Kamb, Alexander , Simard, Jacques , Couch, Fergus , Rommens, Johanna M. , Weber, Barbara L.
IPC分类号： C07K14/82 , C12Q1/68 , G01N33/53 , A01K67/027
CPC分类号： C07K14/4703 , A61K48/00 , Y10S530/828

8. 发明授权

EP0705902B2 Nucleic acid probes comprising a fragment of the 17q-linked breast and ovarian cancer susceptibility gene 失效
标题翻译：核酸探针，其包括17Q相关卵巢癌和乳腺癌易感基因的片段
公开(公告)号：EP0705902B2
公开(公告)日：2008-08-06
申请号：EP95305601.7
申请日：1995-08-11
申请人： The University of Utah Research Foundation , THE UNITED STATES OF AMERICA
发明人： Skolnick, Mark H. , Goldgar, David E. , Miki, Yoshio , Swensen, Jeff , Kamb, Alexander , Harshman, Keith D. , Shattuck-Eidens, Donna M. , Tavtigian, Sean V. , Wiseman, Roger W. , Futreal, P. Andrew
IPC分类号： C07K14/82 , C12Q1/68 , G01N33/574 , C12N5/10 , A61K48/00 , C12N15/12
CPC分类号： C07K14/4703 , A01K2217/05 , A61K38/00 , A61K48/00 , C07K14/82 , C12Q1/6886 , C12Q2600/136 , C12Q2600/172

9. 发明授权

EP0785216B2 Chomosome 13-linked breast cancer susceptibility gene BRCA2 失效
标题翻译：相关的染色体13 Brustkrebsempfindlichkeitsgen BRCA2
公开(公告)号：EP0785216B2
公开(公告)日：2006-06-07
申请号：EP96309211.9
申请日：1996-12-17
申请人： The University of Utah Research Foundation , Endo Recherche Inc. , THE TRUSTEES OF THE UNIVERSITY OF PENNSYLVANIA , HSC Research and Development Limited Partnership
发明人： Tavtigian, Sean V. , Kamb, Alexander , Simard, Jacques , Couch, Fergus , Rommens, Johanna M. , Weber, Barbara L.
IPC分类号： C07K14/82 , C12Q1/68 , G01N33/53 , A01K67/027
CPC分类号： C07K14/4703 , A61K48/00 , Y10S530/828

10. 发明公开

EP0785216A1 Chomosome 13-linked breast cancer susceptibility gene BRCA2 失效
标题翻译：染色体13连锁的乳腺癌易感基因BRCA2
公开(公告)号：EP0785216A1
公开(公告)日：1997-07-23
申请号：EP96309211.9
申请日：1996-12-17
申请人： MYRIAD GENETICS, INC. , Endo Recherche Inc. , THE TRUSTEES OF THE UNIVERSITY OF PENNSYLVANIA , HSC Research and Development Limited Partnership
发明人： Tavtigian, Sean V. , Kamb, Alexander , Simard, Jacques , Couch, Fergus , Rommens, Johanna M. , Weber, Barbara L.
IPC分类号： C07K14/82 , C12Q1/68 , G01N33/53 , A01K67/027
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。具体而言，本发明涉及用于分离和检测人乳腺癌易感基因（BRCA2）的方法和材料，其中一些突变等位基因引起对癌症尤其是乳腺癌的易感性。更具体地说，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。本发明进一步涉及人乳腺癌中BRCA2基因的体细胞突变及其在人乳腺癌的诊断和预后中的用途。此外，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的诊断和预后中的用途。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BRCA2基因突变的筛选，其可用于诊断乳腺癌倾向。

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