Research press release


Nature Genetics

Early detection of esophageal cancer



今回、Rebecca Fitzgeraldたちは、食道がんの臨床検体における遺伝的変異を調べて、初期の食道がんの検体における変異と比較した。その結果、前がん状態と末期がん状態を判別するために使用可能な2つの遺伝子が明らかになった。TP53遺伝子の変異は、食道がんの初期症状を示す患者から見つかったが、食道がんの良性の前駆体であるバレット食道を有する患者からは見つからなかった。もう1つの遺伝子SMAD4の変異は、がん検体のみで見つかったのだ。Fitzgeraldたちは、以上の新知見を用いて、食道がんの早期発見のための新しい検査法を開発した。

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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