Associated Papers
UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants.
Tsoulaki O et al.
Journal of Medical Genetics, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction.
Baldazzi C et al.
International Journal of Molecular Sciences, 2025
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.
Burren OS et al.
Nature Genetics, 2024
Telomere-lengthening germline variants predispose to a syndromic papillary thyroid cancer subtype.
DeBoy EA et al.
American Journal of Human Genetics, 2024
Imetelstat-mediated alterations in fatty acid metabolism to induce ferroptosis as a therapeutic strategy for acute myeloid leukemia.
Bruedigam C et al.
Nature Cancer, 2024
Population-based analysis of POT1 variants in a cutaneous melanoma case-control cohort.
Simonin-Wilmer I et al.
Journal of Medical Genetics, 2023
Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series.
Goldstein AM et al.
Jaad International, 2023
POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.
Zade NH et al.
Journal of Cellular Physiology, 2023
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
A rare missense variant in protection of telomeres 1 (POT1) predisposes to a range of haematological malignancies.
Nathan V et al.
British Journal of Haematology, 2021
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Scheipl S et al.
Therapeutic Advances in Medical Oncology, 2021
Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review.
Belhadj S et al.
Human Mutation, 2020
A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer.
Srivastava A et al.
Cancers, 2020
Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.
Amir M et al.
Cells, 2020
Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.
Jouenne F et al.
Journal of Medical Genetics, 2017
Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.
Speedy HE et al.
Blood, 2016
Haematological cancer: Shelterin complex mutated in familial CLL.
Sidaway P
Nature Reviews. Clinical Oncology, 2016