Fredebohm Johannes, Mehnert Daniel H, Löber Ann-Kathrin, Holtrup Frank, van Rahden Vanessa, Angenendt Philipp, Diehl Frank
Sysmex Inostics GmbH, Falkenried 88, 20251, Hamburg, Germany.
Adv Exp Med Biol. 2016;924:187-189. doi: 10.1007/978-3-319-42044-8_34.
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 regorafenib (GRID III trial) and mutations at known and novel sites of potential secondary resistance were identified.
我们基于Safe-SeqS技术设计了一种高灵敏度检测方法，用于检测KIT基因中的新发突变，并测试了其性能。该检测方法应用于接受瑞戈非尼治疗前后的胃肠道间质瘤（GIST）患者的血浆样本（GRID III试验），并鉴定了潜在继发性耐药的已知和新位点的突变。
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