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Mutational profiles of pancreatic cancer patients from eastern Asia using paired germline and somatic exome sequencing. Ruether J et al. AACR2025

03 Apr 2025

Analysis of 146 Japanese pancreatic adenocarcinoma (PC) patients using exome-based cancer genomic profiling (CGP) identified somatic mutations with KRAS,TP53, SMAD4 and CDKN2A being the most frequent. Enrichment of mutations in kinase signaling pathways including PIK3K/AKT, ERBB2, RAS/MAPK were observed and KRAS hotspot mutations were associated with aggressive disease features such as unrectability, late tumor stage and metastasis. These findings highlight the utility of CGP in identifying actionable mutations to inform treatment strategies and providing prognostic information.