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Cystic fibrosis transmembrane regulator gene carrier status is a risk factor for young onset pancreatic adenocarcinoma

Pancreatic adenocarcinoma is the fourth leading cause of cancer death in the USA. Although predominantly a cancer of the elderly, approximately 20% of patients are diagnosed under the age of 60 years. Younger patients are likely the best candidates for early surgical intervention, and patients at risk for young onset cancer comprise a logical focus for screening or prevention.

Carriers of mutations in the gene that encodes the cystic fibrosis transmembrane conductance regulator ( CFTR ) are associated with chronic idiopathic pancreatitis.1 Chronic pancreatitis, in turn, increases the risk for pancreatic cancer by 26-fold.2 Therefore, we hypothesised that mutations in CFTR may confer a higher risk of pancreatic cancer.

From October 2000 to April 2004, pancreatic cancer patients seen at the Mayo Clinic were ultra rapidly recruited to our study, with more than 75% of all such patients seen at the Mayo …