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ADVANCING GENETIC TESTING IN PANCREATIC CANCER: WHOLE EXOME AND WHOLE GENOME SEQUENCING REVEALS MORE RARE PATHOGENIC MUTATIONS IN ASIAN POPULATIONS
Chien-hui M. Wu
*, Pei-Lung Chen, Wei-Chih Liao
National Taiwan University Hospital, Taipei, Taiwan
Background:Pancreatic cancer is a highly lethal malignancy influenced by genetic predisposition, yet much remains undetected in Asian populations using panel-based testing. This study aimed to characterize the germline genetic landscape of pancreatic cancer in Taiwanese patients utilizing panel-based testing, whole exome sequencing (WES), and whole genome sequencing (WGS).
Methods:We evaluated 350 patients with pancreatic ductal adenocarcinoma (PDAC): 223 underwent panel-based testing and 127 were assessed with WES/WGS. High-coverage sequencing was employed, with structural variants detected using WGS and advanced bioinformatics pipelines. We analyzed genetic variants, focusing on germline mutations and structural variants.
Results:Pathogenic or likely pathogenic (P/LP) mutations were identified in 25.1% of the panel cohort and 19.7% of the WES/WGS cohort. Among homologous recombination deficiency (HRD) genes, BRCA2 mutations were the most frequent, followed by ATM. WGS uniquely identified rare structural variants in genes like TP53 and CASP10, undetectable by other methods. WGS identified P/LP mutations in 6.1% of patients who had negative WES results. These findings underscore the complementary roles of WES and WGS.
Conclusion:This study represents the first comprehensive germline genetic analysis in a Taiwanese PDAC cohort, highlighting the value of WGS for identifying rare variants and structural alterations missed by other techniques. WGS enhances diagnostic accuracy, particularly in high-risk populations, supporting its expanded use in precision medicine for pancreatic cancer.
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