Researcher Discovers Genetic Cause of Thyroid Cancer
Researchers have found three genes that increase the risk of thyroid cancer, which is the largest incidence increase in cancers in men and women.
The study conducted by researchers at Cleveland Clinic used nearly 3,000 patients with Cowden syndrome (CS) or CS-like disease, which is related to an increased risk of breast and thyroid cancer.
The authors explained that mutations in the tumor suppressor gene, PTEN which helps to direct the growth and division of cells is the foundation of Cowden syndrome.
Inherited mutations in the PTEN gene have been found in approximately 80 percent of Cowden syndrome patients, the authors wrote, which prevent the PTEN protein from effectively regulating cell survival and division, which can lead to the formation of tumors.
The researchers found that all six patients under age 18 had pathogenic PTEN mutations recommending that the thyroids of children with PTEN mutation-causing CS-related disease should receive increased surveillance.
The researchers recommend that children with thyroid cancer get tested for PTEN mutations, “which could warrant surveillance for additional cancers or maladies,” explain the authors.
But in contrast, the other two genes, SDH and KLLN, did not associate with thyroid cancer in children.
"Our investigation into the genetics behind thyroid disease raises important details relevant to diagnosis and treatment," said Charis Eng, M.D., Ph.D., Chair and founding Director of the Genomic Medicine Institute of Cleveland Clinic's Lerner Research Institute and lead author of the study published in Clinical Endocrinology & Metabolism.