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April 18, 2026JCO Precision Oncology0 citations

Increasing Use of Germline Genetic Testing in Pancreatic Ductal Adenocarcinoma and Relationship to Clinical Outcome: A Single-Institution Study

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TOThomas N. O’ConnorESEmily SchultzMHMichael Horowitz

Key Points

  • This study investigates the trends in germline genetic testing for pancreatic ductal adenocarcinoma and its relationship with clinical outcomes over time.
  • Analyzed the frequency of germline genetic testing in 979 pancreatic ductal adenocarcinoma patients from 2017 to 2024.
  • Evaluated factors associated with testing and the presence of germline pathogenic variants.
  • Assessed overall survival and the impact of precision treatment based on genetic test results.
  • Germline genetic testing rates increased from 16.5% in 2017 to 57.6% in 2024.
  • Patients who underwent testing experienced improved overall survival compared to those who did not (HR, 0.46).
  • 13.6% of tested patients had a germline pathogenic variant, with actionable mutations identified in BRCA1/2 and MSH6 for subsequent targeted treatments.

Abstract

PURPOSE Precision therapies have improved outcomes in pancreatic ductal adenocarcinoma (PDAC) and highlight the utility of germline genetic testing (GGT) in clinical decision making. Here, we investigate the association of GGT of individuals diagnosed with PDAC over time to identify changes in testing patterns and the relationship of testing with clinicopathologic parameters and overall survival (OS). METHODS The frequency of GGT of 979 patients with PDAC treated at the Roswell Park Comprehensive Cancer Center (RPCCC) between 2017 and 2024 was determined. Factors associated with performing testing and having a germline pathogenic variant (GPV) were assessed. OS and the impact of precision treatment were evaluated. RESULTS Patients with PDAC being treated at RPCCC that had GGT increased from 16.5% in 2017 to 57.6% in 2024. Patients with testing had improved OS compared with patients who did not (HR, 0.46). Individuals of older age, without a personal history of other cancers, without a family history of pancreatic cancer, with advanced disease, and with poorly differentiated tumors were less likely to have testing performed. Individuals with a personal history of other cancers were more likely to have a GPV. Of the 425 patients diagnosed with PDAC that had testing, 58 (13.6%) had a GPV detected. Of patients with testing, 12 had actionable mutations in BRCA1/2 , seven of whom were subsequently treated with olaparib. Three patients harbored actionable mutations in MSH6 , with one patient subsequently treated with pembrolizumab. Patients who received therapy informed by testing results had improved OS (HR, 0.09). CONCLUSION GGT prevalence has increased at RPCCC and informed treatment decisions. Universal point-of-care testing is being implemented with the goal of completing testing for all patients with PDAC seen at RPCCC.

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Cite This Study

O’Connor et al. (2026) studied this question.

synapsesocial.com/papers/69e320fd40886becb65401c7https://doi.org/10.1200/po-25-01088
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