The bad news: In 2012, around 56,000 Americans will be diagnosed with thyroid cancer.
The good news: The disease has a survival rate of nearly 100 percent if caught in its first two stages.
Charis Eng, MD, PhD, founding director of Cleveland Clinic’s Genomic Medicine Institute, works to make early diagnosis possible. Most recently, Dr. Eng and her team identified three genes that raise the risk of thyroid cancer when they are mutated. The research, published in the Journal of Clinical Endocrinology & Metabolism, builds on Dr. Eng’s work exploring the role of the PTEN gene in Cowden’s syndrome, a condition that greatly increases the risk of thyroid and other cancers.
PTEN usually helps cells grow and keeps tumors in check. But a certain mutation causes it to assist tumor growth in follicular thyroid cancer, one type of the disease. The research group also found abnormalities in two other genes, SDH and KLLN, that increase the risk of classic papillary thyroid cancer.
With each new discovery like this, testing and predicting cancer risk gets better — and so do treatment plans. Also, finding a mutation in one individual also means that person’s relatives should seek genetic consultation to determine their own risk.
“These discoveries allow us to personalize screening,” Dr. Eng says. “And the better screenings get, the more we can catch diseases early and even prevent them. We can use them to provide a real treatment guide.”