ArticleThe EMBO journal2021
Cancer-associated POT1 mutations lead to telomere elongation without induction of a DNA damage response.
Article in The EMBO journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- UK clinical practice guidelines for the management of patients with constitutionalJournal of medical genetics · 2025Guideline
- How telomere attrition protects against cancer.Nature reviews. Genetics · 2026Review
- Beyond End Protection: Shelterin, POT1 Dysfunction, and Telomere Replication Stress in Cancer.Biomolecules · 2026Review
- Telomere length of both parents contributes to heritable POT1 cancer-predisposition syndrome.Nature communications · 2026Article
- Article
- Review
- Biogenesis and Regulation of Telomerase during Development and Cancer.Cold Spring Harbor perspectives in biology · 2026Review
- Telomere length of both parents contribute to heritable POT1 cancer-predisposition syndrome.bioRxiv : the preprint server for biology · 2026Article
- Telomere shortening in laminopathic dilated cardiomyopathy.NPJ Regenerative medicine · 2026Article
- Relationship between genetically determined telomere length and childhood glioma risk.Acta neuropathologica communications · 2026Article
- Telomere-driven dysfunctional changes in gynecological cancers: mechanistic insights, biomarker potential, and therapeutic targeting.Frontiers in cell and developmental biology · 2026Review
- GermlineGenetics in medicine open · 2026Article
- Attenuation of ATM signaling by ROS delays replicative senescence at physiological oxygen.Molecular cell · 2025Article
- TRF1 and TRF2 form distinct shelterin subcomplexes at telomeres.Cell reports · 2025Article
- Telomere function and regulation from mouse models to human ageing and disease.Nature reviews. Molecular cell biology · 2025Review
- Active telomere elongation by a subclass of cancer-associated POT1 mutations.Genes & development · 2025Article
- Article
- Metabolic constraint of human telomere length by nucleotide salvage efficiency.Nature communications · 2025Article
- Different phenotypes with different endings-Telomere biology disorders and cancer predisposition with long telomeres.British journal of haematology · 2025Review
- The single-cell revolution in transplantation: high-resolution mapping of graft rejection, tolerance, and injury.Frontiers in immunology · 2025Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
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 of the two phenotypes promotes tumorigenesis is unclear. We tested the effects of CAS9-engineered caPOT1 mutations in human embryonic and hematopoietic stem cells (hESCs and HSCs, respectively). HSCs with caPOT1 mutations did not show overt telomere damage. In vitro and in vivo competition experiments showed the caPOT1 mutations did not confer a selective disadvantage. Since DNA damage signaling is known to affect the fitness of HSCs, the data argue that caPOT1 mutations do not cause significant telomere damage. Furthermore, hESC lines with caPOT1 mutations showed no detectable telomere damage response while showing consistent telomere elongation. Thus, caPOT1 mutations are likely selected for during cancer progression because of their ability to elongate telomeres and extend the proliferative capacity of the incipient cancer cells.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.