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Method and kit for evaluating risk of ovarian cancer in carriers of a BRCA1 mutation

机译:评估BRCA1突变携带者卵巢癌风险的方法和试剂盒

摘要

The association between the presence of one or more rare (infrequent) alleles of the HRAS variable tandem repeat (VTR) polymorphism and the incidence of ovarian cancer in women who harbor a BRCA1 mutation can be used for evaluating risk of ovarian cancer in a human patient. The patient is tested for the presence of a mutation in the BRCA1 gene; and to determine the polymorphic form of the HRAS1 variable tandem repeat region. The presence of both a mutation in the BRCA1 gene and a rare polymorphic form of the HRAS1 variable tandem repeat region is indicative of an elevated risk of developing ovarian cancer. A kit for performing this evaluation includes reagents necessary for performing a test for the BRCA1 mutation and to evaluate the polymorphic form of the HRAS1 variable tandem repeat region.
机译:具有BRCA1突变的女性中HRAS可变串联重复序列(VTR)多态性的一种或多种罕见(不常见)等位基因的存在与卵巢癌发生率之间的关联可用于评估人类患者卵巢癌的风险。对患者进行了BRCA1基因突变检测;并确定HRAS1可变串联重复序列区域的多态形式。 BRCA1基因中的突变和HRAS1可变串联重复序列区域的罕见多态形式均表明存在发展为卵巢癌的风险增加。进行该评估的试剂盒包括进行BRCA1突变测试和评估HRAS1可变串联重复序列区域的多态形式所需的试剂。

著录项

  • 公开/公告号US5912127A

    专利类型

  • 公开/公告日1999-06-15

    原文格式PDF

  • 申请/专利权人 MCGILL UNIVERSITY;

    申请/专利号US19970808195

  • 发明设计人 STEVEN A. NAROD;CATHERINE M. PHELAN;

    申请日1997-02-28

  • 分类号C12Q1/68;C12P19/34;C07H21/04;C07H21/02;

  • 国家 US

  • 入库时间 2022-08-22 02:07:59

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