Pancreatic Cancer and the Family Connection: The Role of Advanced Practitioners in Screening and Educating Genetically At-Risk Individuals

Abstract

Pancreatic cancer is the third leading cause of cancer deaths in the United States. It has a 95% mortality rate within 5 years of the initial diagnosis. Pancreatic ductal adenocarcinoma is the most commonly diagnosed histotype. The average age at diagnosis is 70 years. Familial forms of pancreatic cancer have been associated with pathogenic variants in predisposing genes, including ATM, BRCA1, BRCA2, PALB2, CDKN2A, STK11, MLH1, and MSH2. Collecting information on the patient’s family history may serve as a primary tool to screen an individual’s risk for familial pancreatic cancer. More advanced screening options for individuals at risk include endoscopic ultrasonography, magnetic resonance imaging, and magnetic resonance cholangiopancreatography. Due to pancreatic cancer’s high mortality rate, routine screening of individuals at risk for developing familial pancreatic cancer may result in early diagnosis and improved survivability. This review aims to characterize the genetic risk factors associated with pancreatic cancer and recognize available screening options for at-risk individuals.