ArticleThe British journal of dermatology2019
POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families.
Article in The British journal of dermatology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- UK clinical practice guidelines for the management of patients with constitutionalJournal of medical genetics · 2025Guideline
- POT1 genetic testing in melanoma-prone families in Sweden: germline variant prevalence and tumor spectrum in identified carriers.Acta oncologica (Stockholm, Sweden) · 2025Article
- Genetic Landscape of Familial Melanoma.Genes · 2025Review
- Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.Diseases (Basel, Switzerland) · 2025Review
- Association between thyroid disorders and extra-thyroidal cancers, a review.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2024Review
- POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program.European journal of human genetics : EJHG · 2024Article
- AGenes · 2024Review
- Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer.Frontiers in oncology · 2024Review
- Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients.International journal of molecular sciences · 2023Article
- Article
- Population-based analysis ofJournal of medical genetics · 2023Article
- Association of germline variants in telomere maintenance genes (JAAD international · 2023Article
- UV light-induced dual promoter mutations dismantle the telomeric guardrails in melanoma.DNA repair · 2023Review
- Genetic risk factors in melanoma etiopathogenesis and the role of genetic counseling: A concise review.Bosnian journal of basic medical sciences · 2022Review
- Is Melanoma Progression Affected by Thyroid Diseases?International journal of molecular sciences · 2022Review
- Overview of the 2022 WHO Classification of Familial Endocrine Tumor Syndromes.Endocrine pathology · 2022Review
- Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys.Frontiers in endocrinology · 2022Review
- Article
- Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.Endocrine pathology · 2021Review
- Article
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12 authors at 4 institutions in 4 countries.
Funding
Abstract
backgroundGermline mutations in telomere-related genes such as POT1 and TERT predispose individuals to familial melanoma.
objectivesTo evaluate the prevalence of germline mutations in POT1 and TERT in a large cohort of Spanish melanoma-prone families (at least two affected first- or second-degree relatives).
methodsOverall, 228 CDKN2A wild-type melanoma-prone families were included in the study. Screening of POT1 was performed in one affected person from each family and TERT was sequenced in one affected patient from 202 families (26 families were excluded owing to DNA exhaustion/degradation). TERT promoter sequencing was extended to an additional 30 families with CDKN2A mutation and 70 patients with sporadic multiple primary melanoma (MPM) with a family history of other cancers.
resultsWe identified four families with potentially pathogenic POT1 germline mutations: a missense variant c.233T>C (p.Ile78Thr); a nonsense variant c.1030G>T (p.Glu344*); and two other variants, c.255G>A (r.125_255del) and c.1792G>A (r.1791_1792insAGTA, p.Asp598Serfs*22), which we confirmed disrupted POT1 mRNA splicing. A TERT promoter variant of unknown significance (c.-125C>A) was detected in a patient with MPM, but no germline mutations were detected in TERT promoter in cases of familial melanoma.
conclusionsOverall, 1·7% of our CDKN2A/CDK4-wild type Spanish melanoma-prone families carry probably damaging mutations in POT1. The frequency of TERT promoter germline mutations in families with melanoma in our population is extremely rare.
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