TERT Alterations in Thyroid Cancer

This project aims to investigate genetic alterations in the TERT promoter and telomerase complex genes in thyroid cancer among the Saudi Arabian population. While somatic TERT promoter mutations (TPMs) are well established as drivers of aggressive thyroid cancers, their germline variants, as well as alterations in other telomere complex genes and their promoters, have not been studied in Saudi patients. We will analyze ~300 differentiated thyroid cancer (DTC) samples covering multiple subtypes, alongside matched normal tissues and normal controls.

By identifying germline variants, somatic promoter mutations, and other telomerase-related alterations, the study will provide critical insights into their roles in thyroid tumorigenesis and progression. The expected outcomes include discovery of novel diagnostic and prognostic markers and improved molecular stratification tailored to the Saudi population. Ultimately, this work will pave the way for precision medicine approaches, enabling more accurate risk prediction, better therapeutic targeting, and improved patient outcomes in thyroid cancer.