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Cystic fibrosis transmembrane regulator gene carrier status is a risk factor for young onset pancreatic adenocarcinoma
  1. R McWilliams1,
  2. W E Highsmith2,
  3. K G Rabe3,
  4. M de Andrade3,
  5. L A Tordsen3,
  6. L M Holtegaard4,
  7. G M Petersen5
  1. 1Department of Oncology and Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA
  2. 2Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
  3. 3Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA
  4. 4Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
  5. 5Department of Medicine, Department of Health Sciences Research, and Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA
  1. Correspondence to:
    Dr R McWilliams
    Department of Medicine, Mayo Clinic, Gonda 10, 200 First St, SW, Rochester, MN 55905, USA; mcwilliams.robertmayo.edu

https://doi.org/10.1136/gut.2005.074534

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    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 …

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