Pancreatic cancer (PC) is usually diagnosed at advanced stage. Our aim was to investigate the risk of malignant and premalignant pancreatic lesions in individuals with family history of PC. Individuals at risk of PC were enrolled prospectively in a screening program in Taiwan. All risk individuals received genetic testing of cationic trypsinogen (PRSS1) gene and the serine protease inhibitor Kazal type 1 (SPINK1) gene. They were stratified into three risk groups (high, moderate, and low) based on the family history and genetic testing. Magnetic resonance imaging (MRI) with magnetic resonance cholangiopancreatogram (MRCP) were performed in all screened individuals. A total of three hundred and three risk individuals in 165 families were enrolled with the mean age of 51.1 years, 38.3% of whom were male. A total of 24 of 303 (7.9%) screened individuals had the PRSS1 mutation, and 7/234 (0.3%) had the SPINK1 mutation. Nineteen (6.3%) risk individuals had pancreatic pathology including seven with pancreatic cancer, and four with pancreatic mucinous neoplasms. The earliest age of onset of PC in affected members was an independent factor associated with risk of developing PC in all risk groups. DM was associated with much-increased risk of developing PC in low and moderate risk groups (OR45.8. 95% CI. 13.82-151.64, P=0.001). Combined family history of non-PC malignancy in the family in the low-risk individual was associated with abnormal findings on MRI (OR8.4, 95% CI 3.29-21.88, P < 0.0001). There was no any complication of screening. In summary, pancreatic cancer screening may benefit in risk individuals with family history of pancreatic cancer in our population. The diagnostic yield is similar to prior studies. MRCP as initial screening modality is safe and effective. Future study will be needed to tailor PC screening strategy in different risk populations.
Keywords: Pancreatic cancer; cancer screening; cohort; diabetes; risk individual.