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Gene Mutations Linked to Thyroid Cancer Risk: Study

FRIDAY, Dec. 30 (HealthDay News) -- Researchers have identified three gene abnormalities that appear to raise the likelihood for developing the thyroid cancer, with one in particular -- the PTEN gene -- implicated in children's risk for the disease.

Dr. Charis Eng, founding director of the Genomic Medicine Institute of Cleveland Clinic's Lerner Research Institute, said in a news release that her team's "investigation into the genetics behind thyroid disease raises important details relevant to diagnosis and treatment. We hope to promote the earliest diagnosis and most targeted treatment possible."

The researchers unearthed the gene-cancer risk link by examining and tracking roughly 3,000 patients, many of whom had already been diagnosed with a different disease called Cowden syndrome.

The study, published in the Dec 1. issue of the Journal of Clinical Endocrinology & Metabolism, focused on mutations in three genes: PTEN, SDH and KLLN. Because all work on distinct cell pathways, potential treatments to reduce cancer risk would have to target each gene individually.

Thyroid cancer has experienced the largest increase among both men and women of all cancers, according to the Cleveland Clinic release.

PTEN is a tumor-suppressor gene that, when healthy, aids in cell growth and division. Inherited PTEN mutations, however, impede the gene's normal function while spurring the growth of tumors. These abnormalities are known to be present in about 80 percent of patients with Cowden syndrome, who are considered at risk for developing breast and thyroid cancer.

The investigators concluded that mutations in the PTEN gene were indeed associated with a rise in thyroid cancer risk, with some early indications that mutations in the SDH and KLLN genes might also be implicated.

Children under the age of 18, however, seem to face a unique cancer risk dynamic: While PTEN mutations were seen to elevate their risk for thyroid cancer, SDH and KLLN abnormalities did not.

PTEN testing is already a staple in the world of genetic screening, the release noted.

More information

For more on thyroid cancer, visit the U.S. National Library of Medicine.

-- Alan Mozes

SOURCE: Journal of Clinical Endocrinology & Metabolism, news release, Dec. 23, 2011

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