Genetic Variants in Patients with a Family History of Pancreatic Cancer: Impact of Multigene Panel Testing

Huili Zhu, Sara Welinsky, Emily R. Soper, Karen L. Brown, Noura S. Abul-Husn, Aimee L. Lucas

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Objectives Up to 15% of pancreatic cancer is hereditary. We aim to study the prevalence of pathogenic germline variants (PGVs) in patients referred for genetic counseling with a family history (FH) of pancreatic cancer. Methods We performed a retrospective single institution cohort study of individuals who underwent cancer genetic counseling with a FH of pancreatic cancer. Results We identified 314 patients. Genetic testing was performed in 291 (92.7%) and 187 (59.6%) underwent expanded multigene panel testing. Fifty-four PGVs were found in 53 (16.9%) individuals; PGVs in BRCA1/2 (37%) were most common. Seventy-two variants of uncertain significance (VUS) were found in 58 (18.5%) individuals; VUS in ATM (16.7%) were the most common. Of the 112 (35.4%) with a first-degree family member with pancreatic cancer, 14 PGVs were identified in 14 (12.5%) individuals and 28 VUS were identified in 21 (18.8%) individuals. After genetic testing, 47 (15.0%) individuals met International Cancer of the Pancreas Screening criteria and 67 (21.3%) met American College of Gastroenterology criteria for pancreatic surveillance. Conclusions Genetic testing of individuals with a FH of pancreatic cancer represents an opportunity to identify individuals who may be candidates for pancreatic surveillance.

Original languageEnglish
Pages (from-to)602-606
Number of pages5
Issue number4
StatePublished - 2021


  • family history
  • multigene panel testing
  • pancreatic cancer
  • pathogenic germline variants
  • variants of unknown significance


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