Genetic mutation with links to oesophageal cancer discovered

29 July 2016

Researchers have identified a genetic mutation that may play a role in the development of oesophageal cancer.

A team from University Hospitals Case Medical Center were looking for novel disease susceptibility variants associated with familial Barrett oesophagus in affected individuals from a large multigenerational family.

Using targeted next-generation gene sequencing, a rare mutation called S631G was found in the uncharacterised gene VSIG10L, which could be used to separate those with the disease from those without among the different family members.

Further functional studies revealed this mutation disrupts maturation of the normal oesophageal lining. Now that it has been identified, it could become a target for future diagnostic tools.

Dr Amitabh Chak of University Hospitals Case Medical Center's Seidman Cancer Center and Case Western Reserve University School of Medicine said: "This is a step forward in combating this deadly disease as we discovered a new way to categorise those at risk for esophageal adenocarcinoma."

Oesophageal cancer mainly affects people in their 60s and 70s, and is more common in men than women. Common symptoms include difficulty swallowing, persistent indigestion and heartburn, and weight loss.

Posted by Jeanette Royston


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