Genomic and Immune Landscape of Pancreatic Ductal Adenocarcinoma Associated with Germline Pathogenic Variants in ATM

This study characterizes the genomic and immunophenotypic landscape of pancreatic ductal adenocarcinoma in carriers of germline pathogenic variants in ATM to improve our understanding of the mechanistic pathways involved in pancreas cancer development in germline ATM carriers and aid in the identification of targeted therapeutic strategies. Whole-genome sequencing, whole-exome sequencing, and RNA-sequencing were performed on PDAC tumors from 25 germline ATM PVs carriers diagnosed at Mayo Clinic between 2007 and 2017. Somatic and copy number alterations, mutational signatures, transcriptomic subtypes, and the immune landscape were evaluated.