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Genetic testing may help determine risk of esophageal adenocarcinoma

Genetic testing may help determine whether Barrett’s esophagus patients are more likely to develop esophageal adenocarcinoma, a fatal disease with a low survival rate. The researchers examined data from over 900 individuals and discovered that around 9% of patients with esophageal adenocarcinoma had mutations in cancer-predisposing genes. Notably, ATM gene mutations were the most prevalent. This shows that, like with pancreatic cancer, genetic testing for esophageal adenocarcinoma patients should be addressed.  Esophageal adenocarcinoma is not caused only by a genetic mutation; Barrett’s esophagus and other environmental variables are also necessary. The alterations, however, may hasten the development of Barrett’s esophagus to cancer. Patients with esophageal adenocarcinoma who did not have the typical TP53 mutation in their tumors were more likely to have a harmful germline mutation.

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