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Article

Genetic regulation of TERT splicing affects cancer risk by altering cellular longevity and replicative potential

16 Feb 2025

Abstract excerpt

The chromosome 5p15.33 region, which encodes telomerase reverse transcriptase (TERT), harbors multiple germline variants identified by genome-wide association studies (GWAS) as risk for some cancers but protective for others. Here, we characterize a variable number tandem repeat within TERT intron 6, VNTR6-1 (38-bp repeat unit), and detect a strong link between VNTR6-1 alleles (Short: 24-27 repeats, Long:...

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PMID: 39956830
DOI: 10.1038/s41467-025-56947-y

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