Mutations in the ATM gene may raise a person’s hereditary risk for pancreatic cancer, information that could lead to better screening methods for the disease, researchers have learned.

Approximately 10% of people with pancreatic cancer come from families with multiple cases of the disease. To confirm the suspicion that this clustering was genetically based, a team led by Alison Klein, PhD, director of the National Familial Pancreas Tumor Registry at The Johns Hopkins Hospital in Baltimore, Maryland, sought to identify ATM gene mutations in persons with and without pancreatic cancer.

Using whole genome and whole exome analyses, the researchers learned that 4 of 166 persons (2.4%) with pancreatic cancer had the ATM mutations, but 190 spousal control subsets did not. Among the 87 most severely affected families—those with three or more cases of pancreatic cancer—four mutations were found (4.6%).

Although the genes responsible for the majority of cases of familial pancreatic ductal adenocarcinoma remain unknown, “Our results indicate that inherited ATM mutations play an important role in familial pancreatic cancer predisposition” wrote Klein and colleagues in their report for Cancer Discovery (http://cancerdiscovery.aacrjournals.org/content/early/2011/12/23/2159-8290.CD-11-0194.full.pdf+html?sid=c4047f1c-af1d-437e-8a9b-0e98de86fe33). They also noted that the identification of these mutations has substantial implications for risk assessment and surveillance in family members of people with pancreatic cancer.