A Platform for Rapid Detection of Multiple Oncogenic Mutations With Relevance to Targeted Therapy in Non–Small-Cell Lung Cancer

摘要: The identification of somatically acquired tumor mutations is increasingly important in the clinical management cancer because sensitivity targeted drugs related to genetic makeup individual tumors. Thus, mutational profiles tumors can help prioritize anticancer therapy. We report herein development and validation two multiplexed assays designed detect DNA from FFPE tissue more than 40 recurrent nine genes relevant existing emerging therapies lung cancer. platform involves methods: a screen (SNaPshot) based on multiplex PCR, primer extension, capillary electrophoresis that was assess for 38 somatic eight (AKT1, BRAF, EGFR, KRAS, MEK1, NRAS, PIK3CA, PTEN) PCR-based sizing assay assesses EGFR exon 19 deletions, 20 insertions, HER2 insertions. Both SNaPshot be performed rapidly, with minimal amounts material. Compared direct sequencing, which mutant needs compose 25% or total easily mutation, samples composes 1.56% 12.5% 6.25% DNA, respectively. These robust, reliable, relatively inexpensive should accelerate adoption genotype-driven approach treatment