KRAS and BRAF Mutation Analysis in Routine Molecular Diagnostics: Comparison of Three Testing Methods on Formalin-Fixed, Paraffin-Embedded Tumor-Derived DNA
作者： Daniëlle A.M. Heideman , Irene Lurkin , Marije Doeleman , Egbert F. Smit , Henk M. Verheul
DOI: 10.1016/J.JMOLDX.2012.01.011
关键词:
摘要: Accurate mutation detection assays are strongly needed for use in routine molecular pathology analyses to aid the selection of patients with cancer targeted therapy. The high-resolution melting (HRM) assay is an ideal prescreening tool, and SNaPshot analysis offers a straightforward genotyping system. Our present study was determined compare these testing methods on formalin-fixed, paraffin-embedded (FFPE) tumor–derived DNA. We compared performance HRM, followed by cycle sequencing (HRM-sequencing); multiplex PCR assay, (multiplex assay); successor using (HRM-SNaPshot) both KRAS (codon 12/13/61) BRAF 600/601). In series 195 FFPE-derived DNA specimens, high genotypic concordance between HRM-sequencing found (κ, 0.98; 95% CI, 0.94 1), underlining potential combined HRM-SNaPshot approach. reconstruction experiments, analytical sensitivity twofold fourfold higher than respectively. addition, had good rate (99%) FFPE DNA, highly concordant predecessor (κ both, 0.98). occurrence mutations mutually exclusive. attractive method pathology, given its sensitivity,
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