Cleveland Clinic Logo Thyroid cancer is considered to be highly incident in men and women, that undoubtedly calls for better treatment approaches. As a start, scientists at Cleveland Clinic have uncovered the genetic basis of thyroid cancer by unfolding 3 genes that may elevate the risk for thyroid cancer.

For the analysis, almost 3000 individuals suffering from Cowden syndrome (CS) or a disease similar to CS were incorporated. Patients diagnosed with these conditions are usually considered to be at risk for thyroid and breast cancers.

Charis Eng, MD, PhD, Chair and founding Director of the Genomic Medicine Institute of Cleveland Clinic’s Lerner Research Institute, commented, “Our 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 results of the study revealed the PTEN gene to be the primary cause of CS syndrome. This gene is essentially acts as a tumor-suppressor that controls cell division and survival. Inherited forms of mutated PTEN gene were apparently present in 80% of CS patients. These mutations seemingly restrained the PTEN protein from regulating cell division and survival efficiently, thereby causing tumors.

Almost 6 patients below the age 19 appeared to possess pathogenic PTEN mutation that implied that thyroids of children with these mutations related to CS disease ought to be inspected. On the contrary, changes in the SDH and KLLN genes did not seem to have any link with the incidence of thyroid cancer in children.

The research is published in the Journal of Clinical Endocrinology & Metabolism.