Researchers at the Fred Hutchinson Cancer Research Center and the QIMR Berghofer Medical Research Institute (Australia) found that 4 genetic variants could increase the risk of Barrett’s esophagus and esophageal cancer development.
Barrett’s esophagus, which is the precursor of esophageal cancer, is estimated to affect 1 to 2 million Americans. Nearly 18,000 Americans will develop esophageal cancer this year, and more than 15,000 of them could succumb to their disease within a year of diagnosis.
“Epidemiologic findings, largely based on the work of BEACON investigators, clearly demonstrate that environmental factors such as obesity, gastroesophageal reflux , smoking and diet are largely responsible for the rapidly increasing incidence and mortality from esophageal adenocarconima,” said Thomas L. Vaughan, M.D., M.P.H., a member of the Epidemiology Program in the Public Health Sciences Division at Fred Hutch and the chair of BEACON study.“However, a growing body of evidence also suggests an important role for inherited susceptibility.”
Vaughan and his colleagues analyzed lyfestyle risk-exposure data and DNA specimens from 15 international studies over the past 20 years, including more than 8,000 participants (5,500 with esophageal cancer or Barrett’s esophagus, and 3,200 without these conditions) to determine DNA variants associated with the diseases and the heritability.
Genotyping of the DNA samples with a high-density array technology combined with statistic analysis on public data repositories revealed the potential causal genetic mutations on chromosomes 3, 9, 19 and 16 to have increased risk of Barrett’s esophagus and esophageal cancer development. They also found that inherited susceptibility appears to have a stronger effect in the early stages of the disease — the development of Barrett’s esophagus — rather than in the progression from Barrett’s esophagus to esophageal cancer.
These new findings could be useful for the development of new screening methods to detect genetic mutation with high risk of Barrett’s esophagus and esophageal cancer. “Down the line, we anticipate that a better understanding of the pathophysiology of these diseases will lead to better and earlier treatments,” Vaughan said.