Associated Papers
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.
Sánchez-Vázquez R et al.
Genes & Development, 2025
Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.
Krigstein M et al.
Annals of Laboratory Medicine, 2025
Telomeres and Human Disease.
Savage SA
Cold Spring Harbor Perspectives in Biology, 2025
UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants.
Tsoulaki O et al.
Journal of Medical Genetics, 2025
Clonal Hematopoiesis Prevalence Years Before a Thyroid Cancer Diagnosis: A Case-Control Study.
Cabral PL et al.
Jco Precision Oncology, 2025
Genomic landscape and preclinical models of angiosarcoma.
Benton A et al.
Molecular Oncology, 2025
Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.
Odintsov I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program.
Baptista Freitas M et al.
European Journal of Human Genetics : Ejhg, 2024
POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.
Zade NH et al.
Journal of Cellular Physiology, 2023
Genomic landscape of Epstein-Barr virus-positive extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue.
Rea B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
A mouse model for Li-Fraumeni-Like Syndrome with cardiac angiosarcomas associated to POT1 mutations.
Martínez P et al.
Plos Genetics, 2022
Clinical Impact of Prospective Whole Genome Sequencing in Sarcoma Patients.
Schipper LJ et al.
Cancers, 2022
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
Genomic mutation profile in progressive chronic lymphocytic leukemia patients prior to first-line chemoimmunotherapy with FCR and rituximab maintenance (REM).
González-Rincón J et al.
Plos One, 2021
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
Stolarova L et al.
Biomedicines, 2020
POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families.
Shen E et al.
Journal of Medical Genetics, 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
The enigma of excessively long telomeres in cancer: lessons learned from rare human POT1 variants.
Gong Y et al.
Current Opinion in Genetics & Development, 2020
POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.
Calvete O et al.
Journal of the American Heart Association, 2019
The wide spectrum of POT1 gene variants correlates with multiple cancer types.
Calvete O et al.
European Journal of Human Genetics : Ejhg, 2017
A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers.
Wilson TL et al.
Familial Cancer, 2017
Candidate driver genes involved in genome maintenance and DNA repair in Sézary syndrome.
Woollard WJ et al.
Blood, 2016
Next-generation sequencing reveals somatic mutations that confer exceptional response to everolimus.
Lim SM et al.
Oncotarget, 2016
A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.
Calvete O et al.
Nature Communications, 2015