Performance Characterization and Validation of Saliva as an Alternative Specimen Source for Detecting Hereditary Breast Cancer Mutations by Next Generation Sequencing

摘要: Identification of pathogenic germline mutations by next generation sequencing is a widely accepted tool for predicting the risk hereditary cancer development. Blood most common source DNA such tests. However, blood as sample type has many drawbacks, including invasive collection method, poor stability, and relatively high cost collection. Therefore, in current study we have assessed suitability saliva an alternative genomic identification BRCA1/2 genes (NGS). Our results show that all samples yielded concentrations sufficient library preparation. The final libraries, which were generated PCR using target specific primers, fall into expected range with no notable difference between libraries from derived or blood. Quality parameters indicate performance comparable across source. An average ()% variant calling concordance was obtained two specimen sources. data recommends potential detecting mutation sequencing.