Mutations Linked to Esophagus Disorders Identified

by Sheela Philomena on  July 27, 2011 at 11:11 AM Genetics & Stem Cells News
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Genetic mutations in patients with Barrett's esophagus (BE) and/or the cancer esophageal adenocarcinoma (EAC) has been identified by researchers. None of these mutations were found in patients not affected by BE/EAC, suggesting a previously unknown heritable cause. Identifying genetic markers will allow risk assessment, early detection, improved disease management, and ultimately increased survival.
 Mutations Linked to Esophagus Disorders Identified
Mutations Linked to Esophagus Disorders Identified
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BE is estimated to occur in up to 10 percent of the population, and its incidence has increased more than three-fold since 1970. Related to gastroesophageal reflux disease (GERD), BE is believed to be a precursor to EAC. EAC is typically not diagnosed until its advanced stages, when chances of survival are poor.

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This study, published in the July 27, 2011 issue of the Journal of the American Medical Association and led by Charis Eng, M.D., Ph.D., Chair and Founding Director of the Genomic Medicine Institute of Lerner Research Institute at Cleveland Clinic, was conducted from 2005 to 2010 at 16 different institutions across the United States and involved 298 participants with BE, EAC, or both. To identify genes linked specifically to BE/EAC, the group used the latest in genomics approaches and state-of-the art technology, along with functional genomic validation, to identify MSR1, ASCC1, and CTHRC1 as three genes mutated in 11 percent of the BE/EAC patients studied, indicative of a significant genetic predisposition. Mutations in MSR1 were the most common, affecting seven percent of the patients studied.

Identifying BE/EAC predisposition genes also gives valuable insight to how the disease occurs. Preliminary evidence from this study suggests a role for specific molecular pathways, including inflammation, in the development of BE/EAC, as well as a potential link of the mutated genes to additional cancers as well.

"We are absolutely thrilled to now know three distinct genes that link to BE/EAC," said Dr. Eng. "This is essential for improving risk assessment, disease management, and saving lives."

Source: Eurekalert
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