Researchers has discovered a gene that increases the risk of thyroid cancer, which has the largest incidence increase in cancers among both men and women. The study included nearly 3,000 patients with Cowden syndrome (CS), which is related to an increased risk of breast and thyroid cancer.

Mutations in the PTEN gene, which is a tumor suppressor that helps direct the growth and division of cells, are the foundation of Cowden syndrome. Inherited mutations in the PTEN gene have been found in approximately 80% of Cowden syndrome patients. These mutations prevent the PTEN protein from effectively regulating cell survival and division, which can lead to the formation of tumors.

While the overall approach and treatment options must be further evaluated, the research on the genetics behind thyroid disease raises important questions relevant to diagnosis and treatment.

All of the patients who took part in the study were under the age of 18 and had pathogenic PTEN mutations, suggesting that children with PTEN mutation-causing CS-related disease receive increased surveillance. Moreover, children with thyroid cancer are recommended to have testing for PTEN mutations, which could warrant surveillance for additional cancers or maladies.

PTEN gene testing in the setting of genetic counseling is already routinely practiced, and has been a powerful gene-enabled diagnostic test which then personalizes clinical screening and treatment.

Dr. Larian is a Beverly Hills thyroid expert, and available for consultation. For more information, contact us online or give us a call at 310.461.0300.