Associated Papers
Germline Telomere-Regulating Gene Variants Are Not Associated with Thyroid Cancer in a Saudi Arabian Population.
Alzahrani AS et al.
Thyroid : Official Journal of the American Thyroid Association, 2025
Genetic determinants of prostate cancer predisposition in Ashkenazi Jews.
Perletti G et al.
Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [di] Societa Italiana Di Ecografia Urologica E Nefrologica, 2025
Long-telomeropathy is associated with tumor predisposition syndrome.
Allaire P et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Germline POT1 mutation and neuroblastoma: A mere coincidence or true association.
Legrand C et al.
Pediatric Blood & Cancer, 2024
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies.
Abu Shtaya A et al.
Genes, 2024
Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer.
Jiang YJ et al.
Frontiers in Oncology, 2024
Familial Clonal Hematopoiesis in a Long Telomere Syndrome.
DeBoy EA et al.
The New England Journal of Medicine, 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
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Gounder MM et al.
Nature Communications, 2022
Molecular Characterization of Peritoneal Mesotheliomas.
Offin M et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2022
Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.
Lim TL et al.
Leukemia, 2022
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population.
Malińska K et al.
European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2020
Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.
Tausch E et al.
Haematologica, 2020
Lack of Mutations in POT1 Gene in Selected Families with Familial Non-Medullary Thyroid Cancer.
Orois A et al.
Hormones & Cancer, 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 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families.
Potrony M et al.
The British Journal of Dermatology, 2019
POT1 pathogenic variants: not all telomere pathway genes are equal in risk of hereditary cutaneous melanoma.
Toland AE
The British Journal of Dermatology, 2019
Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma.
Wong K et al.
Jama Dermatology, 2019
Pot1 OB-fold mutations unleash telomere instability to initiate tumorigenesis.
Gu P et al.
Oncogene, 2017
POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia.
Ramsay AJ et al.
Nature Genetics, 2013