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FUNCTIONAL ASSAY TO INVESTIGATE UNCLASSIFIED SEQUENCE VARIANTS OF MISMATCH REPAIR GENES

机译:进行功能不全的调查,以对错误修复基因的未分类序列变体进行调查

摘要

The present invention relates to methods of conducting in vitro functional mismatch repair assays, in order to detect whether a mismatch repair gene from a test subject, is incapable of functioning, when the mismatch repair gene comprises a mutation. Such assays are of use in detecting whether or not a subject may be predisposed or have an increased risk of developing cancer, such as hereditary nonpolyposis colorectal cancer (HNPCC).
机译:本发明涉及进行体外功能失配修复测定的方法,以检测当失配修复基因包含突变时来自测试对象的失配修复基因是否不能起作用。此类测定法可用于检测受试者是否易患癌症或罹患诸如遗传性非息肉病性结肠直肠癌(HNPCC)的癌症的风险增加。

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