Study Links Pancreatic Cancer to Gene Mutation
A new study has identified a gene mutation that may increase the hereditary risk for developing pancreatic cancer.
The ataxia telangiectasia mutated gene, or ATM, may hold the key to better screening for the fourth most common cause of cancer-related death, with over 200,000 cases reported in 2010.
Less than five percent of those diagnosed with the disease survive five years. There are currently no recommended screening tests, but roughly ten percent of patients come from families with a history of pancreatic cancer.
About 10 percent of patients come from families with multiple cases of the disease.
"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," said lead author 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.
Klein used next-generation sequencing, including whole-genome and whole-exome analyses, to identify mutation in the ATM gene in two kindreds with a family history of pancreatic cancer. Her team then tested an additional 166 patients with a family history of the disease, and identified four additional ATM mutations.
The study was published by Cancer Discovery, the newest journal of the American Association for Cancer Research.