Research discovers genetic link to Barrett’s esophagus, esophageal cancer

Posted by: admin on: September 19, 2011

5-year study identifies genes that predispose for BE/EAC


  • Researchers have identified genetic mutations in patients with Barrett’s esophagus (BE) and/or the cancer esophageal adenocarcinoma (EAC).
  • 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.
  • 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 gastro esophageal 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.
  • To identify genes linked specifically to BE/EAC, a study was conducted in which 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.
  • The knowledge of three distinct genes that link to BE/EAC is essential for improving risk assessment, disease management, and saving lives.

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