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    Chromosome 13-linked breast cancer susceptibility gene
    5.
    发明公开
    Chromosome 13-linked breast cancer susceptibility gene 失效
    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。