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首页> 外文会议>International Molecular Medicine Tri-Conference. >Technical Validation of a Next-Generation Sequencing Assay for Detecting Actionable Mutations in Patients with Gastrointestinal Cancer
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Technical Validation of a Next-Generation Sequencing Assay for Detecting Actionable Mutations in Patients with Gastrointestinal Cancer

机译：用于检测胃肠道癌患者可操作突变的下一代测序测定的技术验证

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Targeted next generation sequencing (NGS) is becoming increasingly common as a clinical diagnostic and prognostic test for patient- and tumor-specific genetic profiles as well as to optimally select targeted therapies. Here we describe a custom-developed NGS test for detecting single nucleotide variants (SNVs) and short insertions and deletions (indels) in 93 genes related to gastrointestinal (GI) cancer, from routine formalin-fixed paraffin-embedded (FFPE) clinical specimens. We implemented a validation strategy, based on College of American Pathologists (CAP) requirements, using reference DNA mixtures from cell lines with known genetic variants, which model a broad range of allele frequencies. Test sensitivity achieved was >99% for both SNVs and indels with allele frequencies >10%, with high specificity (97.4% for SNVs and 93.6% for indels).
机译：靶向的下一代测序（NGS）作为患者和肿瘤特异性遗传谱的临床诊断和预后试验以及最佳地选择靶向疗法的临床诊断和预后试验越来越常见。在这里，我们描述了一种定制的NGS测试，用于检测与胃肠道（GI）癌症相关的93个基因中的单一核苷酸变体（SNV）和缺失（Indels），从常规福尔马林固定的石蜡包埋（FFPE）临床标本中的93个基因中的缺失和缺失（诱导）。我们实施了一项验证策略，基于美国病理学家（帽）要求，使用来自细胞系的参考DNA混合物，具有已知的遗传变体，其模拟了广泛的等位基因频率。对SNV和等位基因频率的诱导诱导的测试敏感性> 99％> 10％，具有高特异性（SNV的97.4％，吲哚的93.6％）。

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