One study has identified mutations in three genes as the most frequent in patients suffering from esophageal cancer and Barrett's esophagus, a premalignant metaplasia (change in cells or tissue) caused by chronic gastroesophageal reflux disease (GERD) .

The incidence of esophageal adenocarcinoma (EAC) in the United States and Europe has increased by 350 percent since 1970, due to uncertain causes. It is believed that the esophagus of Barrett (EB) Precedes adenocarcinoma of the esophagus, according to the information offered in the article describing the study, which has been published in the journal 'JAMA'.

The incidence of esophageal adenocarcinoma (EAC) in the United States and Europe has increased 350 percent since 1970, due to uncertain causes

Barrett's esophagus is a common condition, and 1 to 10 percent of cases are estimated in the population. "Finding the predisposing genes can improve the premorbid risk assessment, the genetic counseling and treatment, "the authors say.

Dr. Charis Eng, of the Cleveland Clinic, and their collaborators, conducted a study to identify the gene or genes related to a predisposition to Barrett's esophagus and adenocarcinoma of the esophagus. The research included an analysis of 21 pairs of concordant siblings (both) affected with EB / EAC and 11 pairs of discordant siblings, between 2005 and 2006.

The study also included data on 176 white patients with EB / CAD and 200 matched controls per ancestry, between 2007 and 2010. Data from 19 tissues affected by EB / EAC contributed 12 genes as priority candidates for mutation analysis.

The analyzes associated three genes, MSR1, ASCC1 Y CTHRC, with EB / EAC. According to the analysis of the 12 priority candidates, mutations were found in these three genes in 13 of the 116 patients (11.2%), with MSR1 being the most frequent mutation (approximately 7%), followed by ASCC1 and CTHRC1. "The germline findings (the cells of an individual that contain genetic material that could pass to their offspring) of the MSR1 and CTHRCl mutations were replicated in a series of independent validation," the authors write.

"These three genes together accounted for 11% of the cases, reflecting a genetic load susceptible to causing disease, from moderate to high," they write. "However, more independent studies are needed to replicate the data in other patient populations and thus confirm the conclusions."

The researchers add that future studies with a large number of individuals will be necessary to determine the usefulness of these genes and their variants in risk assessment and risk assessment. premorbid diagnosis.


Managing Eosinophilic Esophagitis – Kevin Ghassemi, MD | UCLA Digestive Diseases (November 2019).