Gene Mutations Linked to Thyroid Cancer Risk:
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
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
PTEN testing is already a staple in the world of genetic
screening, the release noted.
For more on thyroid cancer, visit the
U.S. National Library of Medicine.
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