Surveillance Outcome and Genetic Findings in Individuals at High-Risk for Pancreatic Cancer

Guy Rosner*, Erez Scapa, Tomer Ziv, Nathan Gluck, Merav Ben-Yehoyada

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

INTRODUCTION Pancreatic ductal adenocarcinoma (PDAC) has a poor 5-year survival rate. PDAC surveillance is recommended in high-risk individuals (HRI) with strong PDAC family history or a pathogenic germline variant (PGV) in a PDAC-susceptibility gene. We aimed to explore a potential correlation between genetic status, extent of family history, pancreatic findings, and surveillance implications in heterogeneous PDAC HRIs. METHODS 239 HRIs from 202 families were tested genetically and underwent prospective pancreatic surveillance for 6 years. RESULTS The cohort was divided into 3 groups: familial pancreatic cancer (FPC; 70 individuals, 54 families), familial non-FPC (81 individuals, 73 families), and hereditary pancreatic cancer (PC) (88 individuals, 75 families). PGVs were detected in 37.6% of all families including 11.1% of FPC families and 9.6% of familial non-FPC families. Hereditary PC group had earlier onset of PDAC compared with the other 2 groups. BRCA2 PGV carriers showed earlier onset of PDAC and pancreatic cysts. Of the 239 HRIs, PDAC was detected in 11 individuals (4.6%), with 73% diagnosed at an early stage; 4 (1.67%) had pancreatic neuroendocrine tumor; 6 (2.5%) had main-duct intraductal papillary neoplasm (IPMN); and 41 (17.15%) had side-branch IPMN. 17 individuals were referred to surgery and twelve were alive at end of study. CONCLUSIONS The percentage of PDAC was similar in the 3 groups studied. The hereditary PC group, and particularly BRCA2 PGV carriers, had an earlier age of PDAC onset. PGVs were detected in a significant percentage of PC HRIs. Surveillance appears effective for detection of early-stage PDAC and precursor lesions.

Original languageEnglish
Article number668
JournalClinical and Translational Gastroenterology
DOIs
StateAccepted/In press - 2023

Keywords

  • BRCA1/2
  • Familial pancreatic cancer
  • Genetics
  • Pancreatic cancer surveillance

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