Associated Papers
In silico and in vitro mutational analysis to investigate the structure and pathogenicity of POT1 missense variants.
Nguyen T et al.
Nar Molecular Medicine, 2025
Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.
Thibaud S et al.
Blood Cancer Discovery, 2024
Unveiling the genetic landscape of hereditary melanoma: From susceptibility to surveillance.
Zheng C et al.
Cancer Treatment and Research Communications, 2024
POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.
Zade NH et al.
Journal of Cellular Physiology, 2023
Tumor predisposition: what's the skin got to do with it?
Stacy A et al.
Current Opinion in Pediatrics, 2022
Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup.
Bruno W et al.
Esmo Open, 2022
Melanoma in children and adolescents: analysis of susceptibility genes in 123 Italian patients.
Pellegrini C et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022
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
A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer.
Srivastava A et al.
Cancers, 2020
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1.
Pastorino L 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
Investigation of deleterious effects of nsSNPs in the POT1 gene: a structural genomics-based approach to understand the mechanism of cancer development.
Amir M et al.
Journal of Cellular Biochemistry, 2019
Familial Melanoma: Diagnostic and Management Implications.
Rossi M et al.
Dermatology Practical & Conceptual, 2019
Germline mutations in Protection of Telomeres 1 in two families with Hodgkin lymphoma.
McMaster ML et al.
British Journal of Haematology, 2018
Characterization of melanoma susceptibility genes in high-risk patients from Central Italy.
Pellegrini C et al.
Melanoma Research, 2017
Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a Caucasian family.
De Summa S et al.
Oncotarget, 2017
Pot1 OB-fold mutations unleash telomere instability to initiate tumorigenesis.
Gu P et al.
Oncogene, 2017
Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.
Speedy HE et al.
Blood, 2016
The shelterin complex and hematopoiesis.
Jones M et al.
The Journal of Clinical Investigation, 2016
Identification of novel hereditary cancer genes by whole exome sequencing.
Sokolenko AP et al.
Cancer Letters, 2015
Genetic Testing in the Multidisciplinary Management of Melanoma.
Rashid OM et al.
Surgical Oncology Clinics of North America, 2015
Dissecting Fission Yeast Shelterin Interactions via MICro-MS Links Disruption of Shelterin Bridge to Tumorigenesis.
Liu J et al.
Cell Reports, 2015
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
Genetics of familial melanoma: 20 years after CDKN2A.
Aoude LG et al.
Pigment Cell & Melanoma Research, 2015
Mutations in POT1 predispose to familial cutaneous malignant melanoma.
Trigueros-Motos L
Clinical Genetics, 2014
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.
Shi J et al.
Nature Genetics, 2014