Article
Active telomere elongation by a subclass of cancer-associated POT1 mutations.
Genes & development - 1 Apr 2025
Martin Annika, Schabort Johannes, Bartke-Croughan Rebecca, Tran Stella, Preetham Atul, Lu Robert, Ho Richard, Gao Jianpu, Jenkins Shirin, Boyle John, Ghanim George E, Jagota Milind, Song Yun S, Li Hanqin, Hockemeyer Dirk
Abstract excerpt
Mutations in the shelterin protein POT1 are associated with diverse cancers and thought to drive carcinogenesis by impairing POT1's suppression of aberrant telomere elongation. To classify clinical variants of uncertain significance (VUSs) and identify cancer-driving loss-of-function mutations, we developed a locally haploid human stem cell system to evaluate >1900 POT1 mutations, including >600 VUSs....
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