Mutations in the ATM gene may increase the hereditary risk for pancreatic cancer, according to data published in Cancer Discovery, the newest journal of the American Association for Cancer Research.
Pancreatic cancer is one of the most morbid cancers, with less than 5
percent of those diagnosed with the disease surviving to five years.
Approximately 10 percent of patients come from families with multiple
cases of pancreatic cancer.
"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 and colleagues used next-generation sequencing, including
whole genome and whole exome analyses, and identified ATM gene mutations
in two kindreds with familial pancreatic cancer.
When these initial findings were examined in a large series for
patients, ATM mutations were present in four of 166 subjects with
pancreatic cancer but were absent in 190 spousal control subsets.
Klein said that knowledge of the presence of the ATM gene could lead
to better screening for pancreatic cancer, the fourth most common cause
of cancer-related death. However, there are currently no recommended
screening tests.
Many doctors use endoscopy as a screening tool for pancreatic
cancer, but researchers are still evaluating this technique in clinical
trials.
