International Registries of Families at High Risk of Pancreatic Cancer

Abstract

Purpose: To describe the need for multinational registries of families at high risk of pancreatic cancer and the issues surrounding identification of such families. Results: A consensus position was published describing surveillance of individuals at high risk of pancreatic cancer. Hereditary pancreatitis patients, people with Peutz-Jeghers syndrome, individuals with CDKN2A or BRCA1/2 mutations with a family history of pancreatic cancer and kindred with multiple pancreatic cancers were considered suitable for research-based screening. Mutations responsible for familial predisposition are mostly unknown, although BRCA2 mutations have been identified in some families and a mutation in the palladin gene has been shown to segregate with pancreatic cancer in one kindred. Specific autosomal dominant inheritance of pancreatic cancer risk seems to involve anticipation; this finding aids identification of families and determination of individual risk. Diabetes mellitus is an early symptom of pancreatic cancer, but recent publications suggest that it may not be a significant predisposing factor; this remains controversial. However, in the context of hereditary pancre- atitis, diabetes probably does predispose to pancreatic cancer as shown in a recent description of French families. Conclusion: Appropriate inclusion of patients within registries of high-risk families provides a framework for secondary screening and research on risk stratification and early tumorigenesis.