Studying genes in families with a propensity for certain diseases has led to many critical advances in medicine, including the discovery of statins in family members who suffered heart attacks at an early age. Now, a team of researchers has identified an inherited mutation in a gene linked to a highly lethal cancer of what is commonly known as the food pipe, called esophageal adenocarcinoma (EAC).
Studying genes in families with a propensity for certain diseases has led to many critical advances in medicine, including the discovery of statins in family members who suffered heart attacks at an early age.
"With this discovery, we will be able to identify early those at a high risk of developing EAC in their lifetime, and accordingly tailor screening, lifestyle and treatment strategies to prevent cancer development," said Kishore Guda, an associate professor at the Case Western Reserve School of Medicine and member of the Case Comprehensive Cancer Center.with Amitabh Chak, a professor at the School of Medicine and physician at University Hospitals Cleveland Medical Center.
The researchers used molecular techniques and tissues from humans and animal models to learn what CAV3 does in the esophagus. "In the family where we identified CAV3 mutation," Guda said,"we show that this mutation leads to loss of its normal function and wouldn't be able to repair the injured esophagus."a new role for esophageal mucosal glands in normal healing of injured esophagus, and
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