POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families

BACKGROUND: Germline mutations in telomere-related genes such as POT1 and the TERT promoter predispose to familial melanoma. OBJECTIVE: To evaluate the prevalence of germline mutations in the POT1 gene and in the TERT promoter in a large cohort of Spanish melanoma-prone families (at least two affect...

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Détails bibliographiques
Publié dans:Br J Dermatol
Auteurs principaux: Potrony, Miriam, Puig-Butille, J.A., Ribera-Sola, M., Iyer, V., Robles-Espinoza, C.D., Aguilera, P., Carrera, Cristina, Malvehy, J., Badenas, C., Landi, M.T., Adams, D.J., Puig, Susana
Format: Artigo
Langue:Inglês
Publié: 2019
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6526091/
https://ncbi.nlm.nih.gov/pubmed/30451293
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bjd.17443
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