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.

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。

公开(公告)号：US5837492A

公开(公告)日：1998-11-17

申请号：US639501

申请日：1996-04-29

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 ,  C12N15/12 ,  C12N15/63 ,  C12N5/10 ,  C12N15/09 ,  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.

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。

公开(公告)号：US06440699B1

公开(公告)日：2002-08-27

申请号：US09568816

申请日：2000-05-11

申请人： Sean V. Tavtigian ,  Brad Swedlund ,  Jacques Simard ,  Johanna M. Rommens

发明人： Sean V. Tavtigian ,  Brad Swedlund ,  Jacques Simard ,  Johanna M. Rommens

IPC分类号： C12P2106

CPC分类号： C07K14/47 ,  A01K2217/05 ,  A01K2217/075 ,  A61K38/00 ,  A61K48/00 ,  C07K16/3069

摘要： A human gene which is here named CA7 CG04 has been identified in which mutations have been found which have been correlated with prostate cancer.

摘要翻译： 已经鉴定了这里称为CA7 CG04的人基因，其中已经发现已经与前列腺癌相关的突变。

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。

公开(公告)号：US5709999A

公开(公告)日：1998-01-20

申请号：US483553

申请日：1995-06-07

申请人： Donna M. Shattuck-Eidens ,  Jacques Simard ,  Francine Durocher ,  Mitsuuru Emi ,  Yusuke Nakamura

发明人： Donna M. Shattuck-Eidens ,  Jacques Simard ,  Francine Durocher ,  Mitsuuru Emi ,  Yusuke Nakamura

IPC分类号： A61K38/00 ,  A61K48/00 ,  C07K14/47 ,  C07K14/82 ,  C12N15/12 ,  C12Q1/68 ,  C07H21/02 ,  C07H21/04 ,  C12P19/34

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

公开(公告)号：US5693473A

公开(公告)日：1997-12-02

申请号：US480784

申请日：1995-06-07

申请人： Donna M. Shattuck-Eidens ,  Jacques Simard ,  Francine Durocher ,  Mitsuuru Emi ,  Yusuke Nakamura

发明人： Donna M. Shattuck-Eidens ,  Jacques Simard ,  Francine Durocher ,  Mitsuuru Emi ,  Yusuke Nakamura

IPC分类号： A61K38/00 ,  A61K48/00 ,  C07K14/47 ,  C07K14/82 ,  C12N15/12 ,  C12Q1/68 ,  C07H21/02 ,  C07H21/04 ,  C12P19/34

CPC分类号： C07K14/4703 ,  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。