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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。
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公开(公告)号：US20120315631A1
公开(公告)日：2012-12-13
申请号：US13453324
申请日：2012-04-23
CPC分类号： G01N33/57496 , A01K2217/075 , A61K38/00 , A61K48/00 , C07K14/4703 , C12N9/16 , C12N2799/021 , C12Q1/6886 , C12Q2600/112 , C12Q2600/136 , C12Q2600/16 , C12Q2600/172 , G01N33/57407 , G01N33/57434 , G01N2333/916
摘要： A specific region of chromosome 10 (10q23.3) has been implicated by series of studies to contain a tumor suppressor gene involved in gliomas, as well as a number of other human cancers. One gene within this region was identified, and the corresponding coding region of the gene represents a novel 47 kD protein. A domain of this product has an exact match to the conserved catalytic domain of protein tyrosine phosphatases, indicating a possible functional role in phosphorylation events. Sequence analyses demonstrated the a number of exons of the gene were deleted in tumor cell lines used to define the 10q23.3 region, leading to the classification of this gene as a tumor suppressor. Further analyses have demonstrated the presence of a number of mutations in the gene in both glioma and prostate carcinoma cells. Methods for diagnosing and treating cancers related to this tumor suppressor, designated as TS10q23.3, also are disclosed.
摘要翻译： 染色体10的特定区域（10q23.3）已被一系列研究涉及到包含参与神经胶质瘤的肿瘤抑制基因以及许多其他人类癌症。 鉴定出该区域内的一个基因，该基因的相应编码区代表一种新的47kD蛋白。 该产品的结构域与蛋白酪氨酸磷酸酶的保守催化结构域完全一致，表明在磷酸化事件中可能发挥功能作用。 序列分析表明，在用于定义10q23.3区域的肿瘤细胞系中，该基因的多个外显子被缺失，导致该基因作为肿瘤抑制基因的分类。 进一步的分析已经证明在神经胶质瘤和前列腺癌细胞中基因中存在许多突变。 还公开了用于诊断和治疗与该肿瘤抑制因子相关的癌症的方法，称为TS10q23.3。
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公开(公告)号：US07217795B2
公开(公告)日：2007-05-15
申请号：US10299003
申请日：2002-11-19
IPC分类号： C07K16/00
CPC分类号： G01N33/57496 , A01K2217/075 , A61K38/00 , A61K48/00 , C07K14/4703 , C12N9/16 , C12N2799/021 , C12Q1/6886 , C12Q2600/112 , C12Q2600/136 , C12Q2600/16 , C12Q2600/172 , G01N33/57407 , G01N33/57434 , G01N2333/916
摘要： A specific region of chromosome 10 (10q23.3) has been implicated by series of studies to contain a tumor suppressor gene involved in gliomas, as well as a number of other human cancers. One gene within this region was identified, and the corresponding coding region of the gene represents a novel 47 kD protein. A domain of this product has an exact match to the conserved catalytic domain of protein tyrosine phosphatases, indicating a possible functional role in phosphorylation events. Sequence analyses demonstrated the a number of exons of the gene were deleted in tumor cell lines used to define the 10q23.3 region, leading to the classification of this gene as a tumor suppressor. Further analyses have demonstrated the presence of a number of mutations in the gene in both glioma and prostate carcinoma cells. Methods for diagnosing and treating cancers related to this tumor suppressor, designated as TS10q23.3, also are disclosed.
摘要翻译： 染色体10的特定区域（10q23.3）已被一系列研究涉及到包含参与神经胶质瘤的肿瘤抑制基因以及许多其他人类癌症。 鉴定出该区域内的一个基因，该基因的相应编码区代表一种新的47kD蛋白。 该产品的结构域与蛋白酪氨酸磷酸酶的保守催化结构域完全一致，表明在磷酸化事件中可能发挥功能作用。 序列分析表明，在用于定义10q23.3区域的肿瘤细胞系中，该基因的多个外显子被缺失，导致该基因作为肿瘤抑制基因的分类。 进一步的分析已经证明在神经胶质瘤和前列腺癌细胞中基因中存在许多突变。 还公开了用于诊断和治疗与该肿瘤抑制因子相关的癌症的方法，称为TS10q23.3。
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公开(公告)号：US06262242B1
公开(公告)日：2001-07-17
申请号：US08791115
申请日：1997-01-30
IPC分类号： C07H204
CPC分类号： C12N9/16 , A01K2217/075 , A61K38/00 , A61K48/00 , C07K14/4703 , C12N2799/021
摘要： A specific region of chromosome 10 (10q23.3) has been implicated by series of studies to contain a tumor suppressor gene involved in gliomas, as well as a number of other human cancers. One gene within this region was identified, and the corresponding coding region of the gene represents a novel 47 kD protein. A domain of this product has an exact match to the conserved catalytic domain of protein tyrosine phosphatases, indicating a possible functional role in phosphorylation events. Sequence analyses demonstrated the a number of exons of the gene were deleted in tumor cell lines used to define the 10q23.3 region, leading to the classification of this gene as a tumor suppressor. Further analyses have demonstrated the presence of a number of mutations in the gene in both glioma and prostate carcinoma cells. Methods for diagnosing and treating cancers related to this tumor suppressor, designated as TS10q23.3, also are disclosed.
摘要翻译： 染色体10的特定区域（10q23.3）已被一系列研究涉及到包含参与神经胶质瘤的肿瘤抑制基因以及许多其他人类癌症。 鉴定出该区域内的一个基因，该基因的相应编码区代表一种新的47kD蛋白。 该产品的结构域与蛋白酪氨酸磷酸酶的保守催化结构域完全一致，表明在磷酸化事件中可能发挥功能作用。 序列分析表明，在用于定义10q23.3区域的肿瘤细胞系中，该基因的多个外显子被缺失，导致该基因作为肿瘤抑制基因的分类。 进一步的分析已经证明在神经胶质瘤和前列腺癌细胞中基因中存在许多突变。 还公开了用于诊断和治疗与该肿瘤抑制因子相关的癌症的方法，称为TS10q23.3。
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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
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.
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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。
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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
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.
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28.发明授权Method for ligating adaptors to nucleic acids which methods are useful for obtaining the ends of genes 失效将衔接子与核酸连接的方法，该方法可用于获得基因的末端
公开(公告)号：US5789206A
公开(公告)日：1998-08-04
申请号：US499787
申请日：1995-07-07
申请人： Sean V. Tavtigian , Steven Stone , Ping Jiang , Alexander Kamb
发明人： Sean V. Tavtigian , Steven Stone , Ping Jiang , Alexander Kamb
CPC分类号： C12Q1/6853
摘要： The present invention is directed to cloning the ends of genes. Traditionally it has been very difficult to recover the 5' end of a gene. The present invention greatly eases this problem. The invention is a variation on RACE and uses a combination of techniques. Specific genes are purified by using three enrichment steps--1) a polymerase chain reaction, 2) a hybrid capture step, and 3) a second polymerase chain reaction. The inclusion of the hybrid capture step results in a greater enrichment than occurs with RACE. The ends of the gene are retained by use of a novel technique of attaching adaptors at the ends of the nucleic. The 5' end of the gene is conserved by preparing a first strand of cDNA and ligating to this an adaptor which is partially double stranded wherein the overhang or single stranded region of the adaptor is degenerate which allows for a fraction of the adaptor population to hybridize with the first strand of cDNA at the 3' end of the cDNA. This hybridization holds the adaptor in conjunction with the cDNA during the ligation step thereby resulting in a highly efficient ligation. The unique portion of the adaptor is used to design an oligomer to prime the second strand synthesis. None of the 5' sequence is lost in this method thereby allowing for a greater possibility of recovering the extreme 5' end of the gene.
摘要翻译： 本发明涉及克隆基因的末端。 传统上，恢复基因的5'末端是非常困难的。 本发明大大减轻了这个问题。 本发明是RACE的变体，并且使用技术的组合。 通过使用三个富集步骤-1）聚合酶链反应，2）杂交捕获步骤和3）第二聚合酶链反应来纯化特异性基因。 包含杂交捕获步骤导致比RACE发生的更大的富集。 通过使用在核酸末端连接衔接子的新技术来保留基因的末端。 基因的5'末端通过制备第一条cDNA链并连接到该部分双链的衔接子来保守，其中衔接子的突出端或单链区域是简并的，其允许一部分衔接子群体杂交 cDNA的第一条cDNA在cDNA的3'末端。 该杂交在连接步骤期间使衔接子与cDNA结合，从而导致高效连接。 适配器的独特部分用于设计低聚物以引发第二链合成。 在该方法中没有一个5'序列丢失，从而允许更大的恢复基因的极端5'末端的可能性。
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