ArticleNature genetics2014
POT1 loss-of-function variants predispose to familial melanoma.
Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 231 papers, 5 of them syntheses that pooled it.
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.
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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
231 citing papers in PubMed, 5 syntheses or guidelines pooled it, 381 citations in OpenAlex.
- UK clinical practice guidelines for the management of patients with constitutionalJournal of medical genetics · 2025Guideline
- Systematic review on gene-sun exposure interactions in skin cancer.Molecular genetics & genomic medicine · 2023Pooled it
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.Nature genetics · 2020Pooled it
- Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma.Human molecular genetics · 2018Pooled it
- How telomere attrition protects against cancer.Nature reviews. Genetics · 2026Review
- Telomere length of both parents contributes to heritable POT1 cancer-predisposition syndrome.Nature communications · 2026Article
- Polygenic Risk Scores and Its Association With Cutaneous Melanoma Risk in the Swedish Population.Pigment cell & melanoma research · 2026Article
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- Breast cancer phenotypes in carriers of pathogenic POT1 variants.Familial cancer · 2026Article
- Disruption of CTCF binding by germline non-coding variants inmedRxiv : the preprint server for health sciences · 2026Article
- A high-penetrance intergenic variant at 9p21 confers melanoma susceptibility.Research square · 2026Article
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- Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026Review
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- Article
- Telomere length of both parents contribute to heritable POT1 cancer-predisposition syndrome.bioRxiv : the preprint server for biology · 2026Article
- Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.Pigment cell & melanoma research · 2026Article
- Targeting telomeres in brain vasculature does not impede initiation and progression of glioblastoma.PloS one · 2026Article
- Mice carrying the homologous human shelterin POT1-L259S mutation linked to pulmonary fibrosis show a telomerase deficiency-like phenotype with telomere shortening with increasing mouse generations.Genes & development · 2025Article
171 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
30 authors at 7 institutions in 5 countries.
Funding
Abstract
Deleterious germline variants in CDKN2A account for around 40% of familial melanoma cases, and rare variants in CDK4, BRCA2, BAP1 and the promoter of TERT have also been linked to the disease. Here we set out to identify new high-penetrance susceptibility genes by sequencing 184 melanoma cases from 105 pedigrees recruited in the UK, The Netherlands and Australia that were negative for variants in known predisposition genes. We identified families where melanoma cosegregates with loss-of-function variants in the protection of telomeres 1 gene (POT1), with a proportion of family members presenting with an early age of onset and multiple primary tumors. We show that these variants either affect POT1 mRNA splicing or alter key residues in the highly conserved oligonucleotide/oligosaccharide-binding (OB) domains of POT1, disrupting protein-telomere binding and leading to increased telomere length. These findings suggest that POT1 variants predispose to melanoma formation via a direct effect on telomeres.
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What OpenQuestion holds
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.