Characterization of breast cancers with PI3K mutations in an academic practice setting using SNaPshot profiling

摘要: Mutations in the PIK3CA gene are common breast cancer and represent a clinically useful therapeutic target. Several larger, population-based studies have shown positive prognostic significance associated with these mutations. This study aims to further identify characteristics of patients harboring mutations while evaluating clinical impact genomic testing for Tumors from 312 at Vanderbilt-Ingram Cancer Center were analyzed using multiplex screening assay (SNaPshot). Mutation rates, receptor status, histopathologic characteristics, time recurrence assessed. The number participating trials, specifically trials relating mutation, was examined. Statistically significant differences between wild-type mutated tumors determined Wilcoxon, Pearson, Fischer exact tests. mutation found 25 % tested. Patients significantly more likely express hormone receptors, be lower combined histological grade, reduced recurrence. enter PIK3CA-specific trial. In addition confirming previously established mutations, this demonstrates feasibility utility profiling setting. impacted treatment resulted entering mutation-specific trials.