发明公开
- 专利标题： Chromosome 13-linked breast cancer susceptibility gene
- 专利标题（中）： 染色体13连锁的乳腺癌易感基因
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申请号： EP02006768.2申请日： 1996-12-17
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公开(公告)号： EP1260520A2公开(公告)日： 2002-11-27
- 发明人: Tavtigian, Sean V. , Kamb, Alexander , Simard, Jacques , Couch, Fergus , Rommens, Johanna M. , Weber, Barbara L.
- 申请人： MYRIAD GENETICS, INC. , Endo Recherche Inc. , THE TRUSTEES OF THE UNIVERSITY OF PENNSYLVANIA , HSC Research and Development Limited Partnership
- 申请人地址： 300 Wakara Way Salt Lake City, Utah 84108 US
- 专利权人： MYRIAD GENETICS, INC.,Endo Recherche Inc.,THE TRUSTEES OF THE UNIVERSITY OF PENNSYLVANIA,HSC Research and Development Limited Partnership
- 当前专利权人： MYRIAD GENETICS, INC.,Endo Recherche Inc.,THE TRUSTEES OF THE UNIVERSITY OF PENNSYLVANIA,HSC Research and Development Limited Partnership
- 当前专利权人地址： 300 Wakara Way Salt Lake City, Utah 84108 US
- 代理机构： Irvine, Jonquil Claire
- 优先权： US573779 19951218; US575359 19951220; US576559 19951221; US585391 19960111; US639501 19960429
- 主分类号： C07K14/82
- IPC分类号： C07K14/82 ; C12Q1/68 ; G01N33/53 ; A01K67/027
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/授权文献
- EP1260520B1 Chromosome 13-linked breast cancer susceptibility gene 公开/授权日：2014-09-10
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