Discovery of new potentially actionable mutations in pancreatic ductal adenocarcinoma by next generation sequencing

4127 Background: Advances in chemotherapy, represented by FOLFIRINOX and Gemcitabine plus Nab-paclitaxel regimens, have resulted in a modest outcome improvement and Gamcitabine-based chemotherapy remains the treatment of choice especially in metastatic disease. Therefore, there is an urgent need to develop accurate markers of pre-invasive pancreatic neoplasms in order to help disease diagnosis at an earlier stage and to apply the best treatment. We aimed to better understand PDAC biology and genomic alterations of invasive phenotype by whole genome sequencing (RNAseq and WES). Methods: We analyzed 27 PDAC samples together with their normal counterpart by HiScanSQ Illumina platform (15/27 by RNASeq and 12/27 by WES). All data were mapped with BWA on hg19, SNVs were called with either SNVMix2 (RNA-seq) or MuTect (WES) while Indels were called with GATK. All variants were filtered on dbSNP, 1000genomes and compared with Cosmic data base. Non-synonymous SNVs were analyzed with PROVEAN and SIFT to predict muta...