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

-Team@CMHF

• 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.

For further reading log on to

http://www.eurekalert.org/pub_releases/2011-07/lri-rdg072511.php