Cystic fibrosis transmembrane regulator (CFTR) Delta F508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer

Background-An increased risk of chronic pancreatitis has been described amo ng carriers of the cystic fibrosis transmembrane regulator (CFTR) mutation. In addition, patients with cystic fibrosis may have a higher risk of exocr ine pancreatic cancer. Aims-To determine the prevalence of the Delta F508 mutation and 5T allele, the most common CFTR disease related variants, and to assess their associat ion with lifestyle factors in an unselected series of patients with chronic pancreatitis or pancreatic cancer. Subjects-Patients recruited to the multicentre PANKRAS II study with a diag nosis of chronic pancreatitis and pancreatic cancer from whom normal DNA wa s available. Methods-The Delta F508 mutation and 5T allele were analysed using polymeras e chain reaction amplified normal DNA. Information on clinical and lifestyl e factors was obtained through personal interviews. Results-Among patients with pancreatitis, no Delta F508 alleles were found and the prevalence of the 5T allele was 10.5%, similar to that described in the general population. Among patients with pancreatic cancer, the prevale nce of the Delta F508 mutation and the 5T allele was 2.4% and 5.5%, respect ively. 5T allele carriers with cancer consumed significantly less alcohol t han non-carriers (p=0.038). Conclusions-Our findings do not support the view that the Delta F508 mutati on and 5T allele confer a higher risk of chronic pancreatitis or pancreatic cancer. Nevertheless, our data suggest that interactions between CFTR poly morphism and environmental factors may play a role in the pathogenesis of t hese diseases. Our study emphasises the need for a multinational study to c onclusively establish the role of CFTR variants as genetic susceptibility f actors for chronic pancreatitis and pancreatic cancer.