Research highlight

Early detection of esophageal cancer

Nature Genetics

June 23, 2014

The development of a new test for early detection of esophageal cancer is reported in a study published online this week in Nature Genetics. The test is based on findings reported in the paper about the earliest genes mutated in the disease.

Esophageal cancer is one of the most common cancers in the world and can be caused by many factors, including acid reflux and smoking. The current method of detection for esophageal cancer is an endoscopic test, which is often not effective at detecting cancer.

Rebecca Fitzgerald and colleagues studied the genetic mutations in clinical samples of esophageal cancer and compared them to mutations in samples from earlier stages of the disease. They found two genes that could be used to distinguish between the pre-cancerous stages and the final cancerous stage. Mutations in the gene TP53 were found in patients with early signs of cancer, but not in patients with an earlier, benign precursor of esophageal cancer called Barrett’s esophagus. Another gene, SMAD4, was only mutated in the cancerous samples. The researchers used these findings to develop a new test for early detection of esophageal cancer.

doi: 10.1038/ng.3013

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