Detection and Quantification of KIT Mutations in ctDNA by Plasma Safe-SeqS
Detection and Quantification of KIT Mutations in ctDNA by Plasma Safe-SeqS
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DOI：
10.1007/978-3-319-42044-8_34
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发表时间：
2016-01-01
期刊：
影响因子：
--
通讯作者：
Diehl, Frank
中科院分区：
文献类型：
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作者：
Fredebohm, Johannes;Mehnert, Daniel H.;Diehl, Frank
我们设计了一种基于Safe-SeqS技术的高灵敏度检测方法，用于检测KIT基因中的从头突变，并测试了其性能。将该测定应用于多激酶抑制剂治疗前后GIST患者的血浆样本，并鉴定了潜在继发性耐药的已知和新位点的突变。
We have designed a highly sensitive assay based on the Safe-SeqS technology to detect de novo mutations in the KIT gene and tested its performance. This assay was applied to plasma samples of GIST patients before and after treatment with a multikinase inhibitor and mutations at known and novel sites of potential secondary resistance were identified.