However, the clinical phenotype with pancreatic symptoms encouraged us to investigate a panel of pancreas-related genes, which resulted in finding a known sequence variation inside CTRC.
Similar clinical features were noted in the case and matched groups except for an earlier age of onset of pancreatic symptoms and a higher incidence of pancreatic cancer in the case group and in patients with CFTR mutations compared to the control group (p < 0.05).
Inclusion criteria were the presence of a PRSS1 mutation with pancreatic symptoms or chronic pancreatitis in at least two first-degree relatives or three second-degree relatives without another cause.