@article{5c509c80046c45f7baef7f177304941f,
title = "Genetic Variants in Patients with a Family History of Pancreatic Cancer: Impact of Multigene Panel Testing",
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.",
keywords = "family history, multigene panel testing, pancreatic cancer, pathogenic germline variants, variants of unknown significance",
author = "Huili Zhu and Sara Welinsky and Soper, {Emily R.} and Brown, {Karen L.} and Abul-Husn, {Noura S.} and Lucas, {Aimee L.}",
note = "Funding Information: From the *Department of Medicine, Icahn School of Medicine at Mount Sinai; †Division of Gastroenterology, Columbia University Medical Center; ‡The Institute for Genomic Health, §Division of Genomic Medicine, Department of Medicine, ||Division of Medical Genetics and Genomics, Department of Genetics and Genomic Sciences, and ¶Henry D. Janowitz Division of Gastroenterology, Icahn School of Medicine at Mount Sinai, New York, NY. Received for publication October 13, 2020; accepted March 3, 2021. Address correspondence to: Aimee L. Lucas, MD, MS, Henry Janowitz Division of Gastroenterology, Department of Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1069, New York, NY 10029 (e‐mail: aimee.lucas@mssm.edu). A.L.L. was supported by the American Cancer Society (129387-MRSG-16-015-01-CPHPS). The authors declare no conflict of interest. Supplemental digital contents are available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal{\textquoteright}s Web site (www.pancreasjournal.com). Copyright {\textcopyright} 2021 Wolters Kluwer Health, Inc. All rights reserved. DOI: 10.1097/MPA.0000000000001804 Publisher Copyright: {\textcopyright} Wolters Kluwer Health, Inc. All rights reserved.",
year = "2021",
doi = "10.1097/MPA.0000000000001804",
language = "English",
volume = "50",
pages = "602--606",
journal = "Pancreas",
issn = "0885-3177",
publisher = "Lippincott Williams and Wilkins Ltd.",
number = "4",
}