Summer
2012

Discovery

Researchers Discover Genetic Cause of Thyroid Cancer

Researchers Discover Genetic Cause of Thyroid Cancer


Charis Eng, MD, PhDCharis Eng, MD, PhD

Case Western Reserve University School of Medicine researchers have discovered a genetic link to increased risk of thyroid cancer.

The study¹, led by Charis Eng, MD, PhD, vice chair of the Department of Genetics and Genome Sciences at the School of Medicine and chair and founding director of the Genomic Medicine Institute of Cleveland Clinic’s Lerner Research Institute, included nearly 3,000 patients with Cowden syndrome—a difficult-to-recognize disorder characterized by multiple benign tumor-like growths that is related to an increased risk of breast, thyroid and other cancers.

Germline mutations of PTEN and SDH, and germline epimutations of KLLN, have been linked to Cowden’s, but it was unknown whether the same genetic mutations were also associated with thyroid cancer.

Researchers found an increased risk for thyroid cancer in adults associated with mutations in all three genes, with the highest risk conferred by SDH germline mutations. The risk for pediatric-onset thyroid cancer was strongly associated with pathogenic PTEN mutations. However, alterations in the SDH and KLLN genes did not associate with thyroid cancer in children. Germline mutations in PTEN associate with the less common follicular histology in adults.

Researchers hope the new genetic insight will lead to earlier diagnosis and more informed, targeted treatment options.

1 Research funded by NIH grant No. P01 CA124570.