Using TERT variant-to-function analysis to define cryptic telomere biology disorders in sporadic cancers
Awardee: Coleman Lindsley
Institution: Dana-Farber Cancer Institute
Grant Amount: $62,528.00
Funding Period: February 1, 2023 - January 31, 2024
Summary:
Impaired telomere maintenance is linked to development of cancer. Inherited mutations affecting telomerase cause short telomeres in all tissues and an increased risk of specific cancers. The goal of this proposal is to define the spectrum and functional impact of inherited TERT mutations in adults with cancer and analyze associations with clinical outcomes. To achieve this goal, we have assembled a cohort of 40,000 adult patients with various cancers, will identify TERT variants in existing DNA sequencing data, and perform comprehensive functional interrogation of cancer-associated TERT variants to define their effects on telomerase function.