改进体细胞突变的检测

T. Moorthy
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引用次数: 0

摘要

对该主题的兴趣源于使用等位基因特异性多重测序(ASMS)技术检测Braf p. V600E/K突变的研究,并将其与SNapShot或Ion Torrent检测Braf p. V600E进行了比较。虽然阳性结果之间没有不一致,但阴性结果之间存在显著不一致,表明后两种方法可能存在假阴性[1]。当asm Braf p. V600E/K突变与FDA批准的Braf Test (ThxID)进行比较时,也观察到类似的模式(未发表的数据)。这种不一致的结果是否有临床意义?如果是这样,是否可以改进体细胞突变的测试方案,以适应测试方法之间的潜在差异,以便产生的结果可以分级,以进行有意义的临床解释?至少有四个领域可能受到这种不一致结果的影响;
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Improving Detection of Somatic Mutations
J Cancer Res Therap Oncol 2019 | Vol 7: 101 Interest in this topic originated from studies on the detection of Braf p. V600E/K mutations using Allele Specific Multiplex Sequencing (ASMS) technology, which was compared to detection of Braf p. V600E by either SNapShot or Ion Torrent. Although there was no discordance among the positives, there was significant discordance among the negatives, indicative of potential false negatives by the latter two methods [1]. A similar pattern was observed when ASMS Braf p. V600E/K mutations was compared to an FDA approved Braf Test (ThxID) (unpublished data). Is there any clinical significance to such discordant results? If so, can testing protocols of somatic mutations be improved to accommodate for potential discrepancies among the test methods so that the results generated could be graded for meaningful clinical interpretation? There are at least four areas that could be affected by such discordant results;
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