According to data published in Cancer Discovery, the latest journal of the American Association for Cancer Research, the risk of inheriting pancreatic cancer may be increased by mutations in the ATM gene.

Less than 5% of diagnosed pancreatic cancer victims survive beyond 5 years, which makes pancreatic cancer one of the most deadly cancers, and about 10% of pancreatic cancer victims stem from families with multiple cases of this cancer.

Lead researcher Alison Klein, Ph.D., associate professor of oncology at the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins and director of the National Familial Pancreas Tumor Registry stated:

“There was significant reason to believe this clustering was due to genetics, but we had not, to this point, been able to find the causative genes that explained the cluster of pancreatic cancer for a majority of these families.”

Klein and her team performed next-generation sequencing with whole genome and whole exome analyses and detected ATM gene mutations in two related individuals within the same family who had the same pancreatic cancer.

Initial findings of assessing a large patient cohort revealed ATM mutations in 4 of 166 patients with pancreatic cancer, but were absent in 190 spousal control subsets.

Klein says that knowing the presence of the ATM gene could lead to improved pancreatic cancer screening, given that pancreatic cancer is the fourth most common cause of cancer-related mortality.

At present, no recommended screening tests exist for pancreatic cancer, although many doctors perform an endoscopy as a screening tool, this screening approach is still being evaluated in clinical trials.

Written by Petra Rattue