Article
Cancer-associated POT1 mutations lead to telomere elongation without induction of a DNA damage response.
The EMBO journal - 15 Jun 2021
Kim Won-Tae, Hennick Kelsey, Johnson Joshua, Finnerty Brendan, Choo Seunga, Short Sarah B, Drubin Casey, Forster Ryan, McMaster Mary L, Hockemeyer Dirk
Abstract excerpt
Mutations in the shelterin protein POT1 are associated with chronic lymphocytic leukemia (CLL), Hodgkin lymphoma, angiosarcoma, melanoma, and other cancers. These cancer-associated POT1 (caPOT1) mutations are generally heterozygous, missense, or nonsense mutations occurring throughout the POT1 reading frame. Cancers with caPOT1 mutations have elongated telomeres and show increased genomic instability, but which...
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