ReviewCurrent opinion in genetics & development2020
The enigma of excessively long telomeres in cancer: lessons learned from rare human POT1 variants.
Review in Current opinion in genetics & development, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 46 citations in OpenAlex.
- Genetic Determinants of Telomere Length and Their Role in Human Disease: Molecular Mechanisms and Underrepresented Populations' Perspectives.Biomedicines · 2026Review
- Diagnosis and management of adult telomere biology disorders.Haematologica · 2026Review
- GermlineJCO precision oncology · 2025Article
- Telomere function and regulation from mouse models to human ageing and disease.Nature reviews. Molecular cell biology · 2025Review
- Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.JAMA network open · 2024Article
- CoPixie, a novel algorithm for single-particle track colocalization, enables efficient quantification of telomerase dynamics at telomeres.Nucleic acids research · 2024Article
- POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program.European journal of human genetics : EJHG · 2024Article
- Does Effective Population Size Govern Evolutionary Differences in Telomere Length?Genome biology and evolution · 2024Article
- Telomere length and cancer risk: finding Goldilocks.Biogerontology · 2024Review
- GermlineGenes · 2024Review
- Article
- A pan-sarcoma landscape of telomeric content shows that alterations in RAD51B and GID4 are associated with higher telomeric content.NPJ genomic medicine · 2023Article
- Exploring Genetic Interactions with Telomere Protection GeneBiomolecules · 2023Review
- Quantification of 8-International journal of molecular sciences · 2022Article
- Plasticity, pleiotropy and fitness trade-offs in Arabidopsis genotypes with different telomere lengths.The New phytologist · 2022Article
- Article
- Article
- Review
- Cancer-associated POT1 mutations lead to telomere elongation without induction of a DNA damage response.The EMBO journal · 2021Article
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
The discovery that rare POT1 variants are associated with extremely long telomeres and increased cancer predisposition has provided a framework to revisit the relationship between telomere length and cancer development. Telomere shortening is linked with increased risk for cancer. However, over the past decade, there is increasing evidence to show that extremely long telomeres caused by mutations in shelterin components (POT1, TPP1, and RAP1) also display an increased risk of cancer. Here, we will review current knowledge on germline mutations of POT1 identified from cancer-prone families. In particular, we will discuss some common features presented by the mutations through structure-function studies. We will further provide an overview of how POT1 mutations affect telomere length regulation and tumorigenesis.
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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.