Patients with deleterious germline mutations: A heterogeneous population for pancreatic cancer screening?

Alexandra M. Roch, Rachel C. Kim, Trang K. Nguyen, Michael G. House, Nicholas J. Zyromski, Attila Nakeeb, C. Max Schmidt, Eugene P. Ceppa

Research output: Contribution to journalArticlepeer-review


Background and Objectives: Modest data exist on the benefits of screening and surveillance for pancreatic cancer (PC) in high-risk individuals. Intraductal papillary mucinous neoplasms (IPMN) are known precursors to PC. We hypothesized that patients with high-risk deleterious germline mutations have a higher prevalence of IPMN. Methods: All patients undergoing prospective screening at a single institution from 2013 to 2019 were reviewed. Results: Of 1166 patients screened, 358 (31%) possessed germline mutations and/or family history of PC (mutations n = 201/358, 56%, family history n = 226/358, 63%) (median follow-up 2.7 years). IPMN was found in 127 patients (35.5%). The prevalence of IPMN in mutation carriers (18%) was higher than in the general population (p < 0.01). Germline mutation was an independent predictor of IPMN (odds ratio [OR] = 3.2; p < 0.01), while family history was not (p = 0.22). IPMN prevalence was distributed unevenly between mutation types (67%-Peutz-Jeghers; 43%-HNPCC, 24%-BRCA2; 17%-ATM; 9%-BRCA1; 0%-CDKN2A and PALB2). Conclusion: In this series, 18% of mutation carriers harbored IPMN, higher than the general population. Germline mutation, but not a family history of PC, was independently associated with IPMN. This prevalence varied across mutation subtypes, suggesting not all mutation carriers develop precancerous lesions. Genetic testing for patients with a positive family history may improve screening modalities for this high-risk population.

Original languageEnglish
Pages (from-to)289-294
Number of pages6
JournalJournal of surgical oncology
Issue number2
StatePublished - Aug 2023


  • germline mutations
  • hereditary pancreatic cancer
  • intraductal papillary mucinous neoplasms
  • pancreatic cancer screening


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