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dna test thyroid gene discovery

A gene that is normally found to be in a rare type of anemia has recently been discovered to be a contributing factor to thyroid cancer.

Researches in Cleveland Clinic led by Dr. Charis Eng have discovered the gene when studying tumors that are found to arise in Cowden Syndrome patients. The inherited condition is characterized by benign tumor growth called hamartomas. However, these tumors are of high risk of developing into certain cancers, such as thyroid and breast cancer.

The discovered gene SEC23B in normal cells has a function of encoding a protein that in turn is involved in the transport of all other proteins within the cell. SEC23B was originally discovered some years ago, in which it was found to have a loss of function in patients with a rare form of anemia. What Dr. Eng and her team have uncovered however was when the gene was mutated for overexpression, cells were growing at an accelerated rate and were forming large and invasive colonies. These colonies of cells were able to survive under stressful environmental conditions that normal cells are unable to do – typical of cancer cells.

The team later analyzed the gene to view it in both patients with and without Cowden Syndrome. The results showed that the mutated SEC23B gene was found in about 3% of Cowden Syndrome patients, and about 4% of patients with thyroid cancer unrelated to the syndrome.

According to Dr. Eng, “The discover of this new cancer-predisposing gene will facilitate predictive genetic testing, risk assessment, genetic counseling, and clinical management of the disease.”

The American Thyroid Association states that an estimated 45,000 patients in the United States are diagnosed with thyroid cancer every year. Although most forms of thyroid cancers are found to be treatable, this discovery nonetheless opens the door to new ways of diagnosing cancers on the genetic level, as well as for testing the gene for risk assessment.

Read the full press release here.
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