In a new study, researchers have identified a rare, inherited gene mutation that dramatically raises the lifetime risk of pancreatic and other cancers.
The finding is from a highly cancer-prone family.
It could lead to routine testing of individuals with a strong family history of pancreatic cancer.
The research was conducted by a team from Dana-Farber/Brigham and Women’s Cancer Center.
About 10 percent of pancreatic cancers have a familial pattern, and in most cases, the causative genetic flaw isn’t known, although some mutations have been identified.
One inherited mutation that can predispose individuals to pancreatic cancer occurs in the gene BRCA2, the gene is also known to cause some breast and ovarian cancers.
The newly identified mutation in the gene RABL3 similarly increases the likelihood that cancer will develop during the person’s lifetime.
In the study, the team found the mutation when they studied a family in which there were five relatives with pancreatic cancer and multiple family members with other cancers.
It is a pattern suggesting an inherited mutation causing a predisposition to develop cancer.
The analysis included sequencing the DNA of one family member, who developed pancreatic cancer at age 48, and that of her paternal uncle, who was diagnosed with it at age 80.
The RABL3 mutation was also found in several other family members who developed cancer and in one family member who has not been diagnosed with cancer.
The team then confirmed the finding in zebrafish. They found, similar to individuals in the patient family, zebrafish carrying the RABL3 mutation had dramatically higher rates of cancer.
The researchers say pancreatic cancer is a challenging disease with limited treatment options.
Familial pancreatic cancer, in which an inherited genetic mutation is responsible for multiple cases in a single-family, may give scientists precious insights that open new preventative and treatment options for pancreatic cancer.
A genetic test may help detect pancreatic cancer in an earlier, potentially more treatable stage.
In addition, relatives of a high-risk family could choose to be tested to learn if they carry the mutation.
The team hopes the commercial tests will incorporate mutations in this gene in future panels.
The lead author of the study is Sahar Nissim, MD, Ph.D., a cancer geneticist and gastroenterologist at Dana-Farber Cancer Institute and Brigham and Women’s Hospital.
The study is published in Nature Genetics.
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