The risk for developing early-onset pancreatic cancer (age under 60 years) is twice as high for people who carry a variant of the gene that causes cystic fibrosis as for noncarriers of the variant, according to an article published online October 14th by Gut.

Pancreatic cancer kills over 32,000 people in the United States each year, with roughly 20 percent under age 60 years. “Being able to screen for a genetic mutation that points to a higher risk will enable us to intervene earlier,” said Robert McWilliams, MD, Mayo Clinic oncologist and lead author of the study. “Early screening is one step in the process to developing ways to prevent or cure this deadly disease.”

Nearly all patients who develop pancreatic cancer will die from the disease. A genetic marker that helps physicians find individuals most at risk to develop the cancer also will help find it early enough to perform effective surgery.

Individuals who carry the cystic fibrosis gene mutation are known to be at increased risk for pancreatitis, and chronic pancreatitis has been proven to increase the risk of pancreatic cancer 26-fold, which led Mayo Clinic researchers to the hypothesis that mutations in the gene that carries cystic fibrosis may be directly linked to a higher risk for pancreatic cancer.

From October 2000 to April 2004, pancreatic cancer patients seen at the Mayo Clinic were recruited for the study - 75 percent of all new patients registered. The pilot study reviewed 33 patients from 41 to 81 years old, with 7 having a diagnosis of pancreatitis at least one year prior to cancer diagnosis.

Of the 33, a mutation was found in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in two patients, both younger than 60 years. A follow-up study was designed to test all early-onset cases in the registry, resulting in a study group of 166 patients. This study showed that mutations in the CFTR gene were present in twice as many young pancreatic cancer patients than in the comparison group, which consisted of all patients tested for CFTR at Mayo Clinic from November 2003 to May 2004.

Further study is needed, and Dr. McWilliams cautions that the overall risk to carriers of cystic fibrosis is still small. However, he and his colleagues say this is a step towards greater understanding of who is at risk for developing pancreatic cancer at a young age.

“We are excited about the finding,” said McWilliams, “And we have an additional study underway with more patients to confirm the finding for young patients as well as look at implications for those over age 60.”