Genetic Basis Found for Barrett's Esophagus and Esophageal Cancer

Researchers have linked mutations in three genes to Barrett’s Esophagus and esophageal cancer. Barrett’s esophagus (BE) is linked to gastroesophageal reflux disease (GERD) and is itself thought to be a precursor to esophageal adenocarcinoma (EAC), a common esophageal cancer. The incidence of EAC has increased over three-fold in the US since 1970, with no known cause.

The study, which was published in the July 27, 2011 issue of The Journal of the American Medical Association, performed genetic analysis on those with and without BE/EAC and found that mutations in the genes MSR1, ASCC1, and CTHRC1 were associated with BE/EAC. Mutations in the at least one of the three genes were found in 13 of 116 patients with BE/EAC, or 11.2%. The researchers write that this is a “a moderate-to-high penetrance genetic load for a disease.” However, they caution that further study is required to confirm their findings.

Identifying genetic markers for the disease has the potential to help detect and treat those at risk earlier, which will lead to increased survival. The research gives some indication that molecular pathways involving inflammation are involved in the development of BE/EAC—and that the mutated genes may be linked to other cancers as well.

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Germline Mutations in MSR1, ASCC1, and CTHRC1 in Patients With Barrett Esophagus and Esophageal Adenocarcinoma (abstract) [The Journal of the American Medical Association]