Scientists Find a Rare Gene Mutation That Increases the Chance of Family Members Developing Pancreatic Cancer in their Lifetime

Scientists have found a rare gene mutation that increases the chances of developing pancreatic cancer, and other cancers, within a person’s lifetime. This inherited gene mutation is giving scientists hope that they can find better outcomes for those diagnosed with pancreatic cancer, but are also asking families to get tested for the gene mutation. 

“There is evidence that catching pancreatic cancer through screening of high-risk individuals may improve outcomes,” says Sahar Nissim, MD, PhD 

The mutation found in the gene known as RABL3 increases the chance that a person will be diagnosed with pancreatic cancer. The gene mutation is something a person is born with and increases the chances of being diagnosed with cancer later in life. 

The RABL3 mutation, which was discovered by investigators from Dana-Farber/Brigham and Women’s Cancer Center joins BRCA2, another gene mutation, which has also been known to make a person with a family history of pancreatic cancer vulnerable to contacting the disease 

Investigators believe that studying these inherited genes may open the door for discoveries of new treatments for pancreatic cancer. These studies may also help the ways doctors can detect pancreatic cancer. 

“Familial pancreatic cancer, in which an inherited genetic mutation is responsible for multiple cases in a single family, may give us precious insights that open new preventive and treatment options for pancreatic cancer, the investigators said. 

The mutation gene RABL3 came to light through the studies of five family members who have had pancreatic cancer, as well as having other family members who have had other types of cancer. The mutation was also discovered in other family members who have been diagnosed with cancer, as well as a family member who had not been diagnosed.  

“This work highlights the power of studying and understanding rare family syndromes,” said Nissim. “From just one family, we have uncovered broadly important insights into pancreatic cancer and how we may better prevent or treat it.”  

These studies and testing of family members shed light on inherited mutations. Family members with a history of pancreatic cancer are recommended to be tested routinely to see if they have these mutations.  

“We anticipate that testing for this genetic mutation will be recommended in any individual with a strong family history of pancreatic cancer,” said Nissim.  

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