Researchers have identified specific mutations in the epidermal growth factor (EGF) gene that are associated with increased esophageal cancer risk in people with gastroesophageal reflux disease (GERD). This is the first study to examine EGF mutations as predictors of esophageal cancer risk in patients with GERD.

The findings were presented at the sixth annual Gastrointestinal Cancer Symposium, co-sponsored by the American Gastroenterological Association (AGA) Institute, the American Society of Clinical Oncology (ASCO), the American Society for Radiation Oncology (ASTRO) and the Society of Surgical Oncology (SSO).

"We've known for some time that GERD is a risk factor for esophageal cancer, but our findings are the first to identify specific genetic markers that are linked with increased cancer risk in patients with GERD," said Winson Y. Cheung, MD, a clinical research fellow working with the University of Toronto and the Harvard School of Public Health, and the lead author of the study. "While our findings will need to be validated in larger and more diverse patient groups, this is a first step in the right direction toward developing a test to identify which patients are at highest risk of esophageal cancer and would benefit from more aggressive screening. And because GERD is a common condition, the ability to single out patients at high risk of cancer could lead to better outcomes and significant cost savings."

If detected early, esophageal cancer is generally curable, but screening is invasive and expensive, so it is not recommended for all patients with GERD.

In this study, the researchers collected DNA samples from 309 patients being treated for esophageal adenocarcinoma at Massachusetts General Hospital in Boston, and 275 healthy, matched controls. The investigators analyzed study participants' genotypes and GERD history.

They found that patients who had the mutated EGF variant called G/G and experienced symptoms associated with GERD more than once a month were at a 10-fold increased risk of esophageal cancer, compared with those who had the A/A (normal, or wild-type) variant and did not have GERD. Esophageal cancer risk increased further among patients with the mutation who suffered from GERD more frequently or for a long period of time (more than 15 years). Patients with GERD and the genetic variant called A/G had an intermediate increase in risk.