Approved Research

Genetic architecture of thyroid cancer and its clinical utility.

Lay summary

Thyroid cancer is a common disease. The number of new diagnosis of thyroid cancer is increasing, and more patients are dying from this disease. It is not known why some people develop benign thyroid nodules, while others develop thyroid cancer. It is thought that inherited genetic predisposition plays a significant role in the risk of developing thyroid cancer. In this proposal, we pursue two aims. First, we want to explore genetic variants associated with the development of thyroid cancer but not benign thyroid nodular disease. To achieve this goal, we will use genetic and clinical data from the UK Biobank and combine this analysis with similar studies in other Biobanks.

Thyroid nodules are very common, and thyroid cancer is ruled out by performing a nodule biopsy. However, most biopsies produce a benign result and, therefore, can be avoided. Therefore, our second aim is to develop a genetic test, called a polygenic risk score,  that discriminates between benign and cancerous thyroid nodules using data from UK Biobank and other Biobanks. This test will help prioritize thyroid nodules that are more likely to be malignant for the biopsy. This project will contribute to the personalized approach to the diagnosis of thyroid cancer and reduce the number of biopsies performed for benign thyroid nodules.