Genetic Variants in Patients With a Family History of Pancreatic Cancer: Impact of Multigene Panel Testing. Issue 4 (April 2021)

• Record Type: Journal Article
• Authors: Zhu, Huili; Welinsky, Sara; Soper, Emily R.; Brown, Karen L.; Abul-Husn, Noura S.; Lucas, Aimee L.
• Is Part Of: Pancreas. Volume 50:Issue 4(2021)
• Publication Date: 2021-04
• Subjects: pancreatic cancer -- family history -- multigene panel testing -- pathogenic germline variants -- variants of unknown significance; Pancreas -- Diseases -- Periodicals; Pancreas -- Periodicals; Neuroendocrine tumors -- Periodicals; 616.37005
• DOI: 10.1097/MPA.0000000000001804
• Languages: English
• ISSNs: 0885-3177

Abstract

Abstract : 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. Abstract : Supplemental digital content is available in the text.