Assessment of Sensitivity and Accuracy in Quantification of EGFR Mutations Using Droplet Digital PCR

摘要

Cancer diagnosis using circulating tumor DNA (ctDNA) in blood, an alternative to invasive tumor biopsy, has become popular. Specifically, monitoring epidermal growth factor receptor (EGFR) mutations in cancer patients' blood has broad implications in diagnosis and therapeutics. Low level of ctDNA in blood requires sensitive detection assays, however these often compromises specificity. Therefore, each assay designed to measure ctDNA amount regarding mutant allele frequency must be robustly validated using reference materials with known values.