Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series

Spitzoid morphology in familial melanoma has been associated with germline variants in POT1, a telomere maintenance gene (TMG), suggesting a link between telomere biology and spitzoid differentiation. The aim is to assess if familial melanoma cases associated with germline variants in TMG (POT1, ACD...

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Detalhes bibliográficos
Autores: Goldstein, Alisa M., Qin, Richard, Chu, Emily Y., Elder, David E., Massi, Daniela, Adams, David J., Harms, Paul W., Robles-Espinoza, Carla Daniela, Newton-Bishop, Julia A., Bishop, D. Timothy, Harland, Mark, Holland, Elizabeth A., Cust, Anne E., Schmid, Helen, Mann, Graham J., Puig, Susana, Potrony, Miriam, Alos, Llucia, Nagore Enguidanos, Eduardo, Millán Esteban, David, Hayward, Nicholas K., Broit, Natasa, Palmer, Jane M., Nathan, Vaishnavi, Berry, Elizabeth G., Astiazaran-Symonds, Esteban, Yang, Xiaohong R., Tucker, Margaret A., Landi, Maria Teresa, Pfeiffer, Ruth M., Sargen, Michael R.
Formato: artículo
Fecha de publicación:2023
País:España
Recursos:Universidad Católica de Valencia San Vicente Mártir
Repositorio:RIUCV. Repositorio de la Universidad Católica de Valencia San Vicente Mártir
Idioma:inglés
OAI Identifier:oai:riucv.ucv.es:20.500.12466/3226
Acesso em linha:http://hdl.handle.net/20.500.12466/3226
Access Level:acceso abierto
Palavra-chave:Familial melanoma
Melanoma
Spitzoid melanoma
Spitz melanoma
32 Ciencias Médicas
Descrição
Resumo:Spitzoid morphology in familial melanoma has been associated with germline variants in POT1, a telomere maintenance gene (TMG), suggesting a link between telomere biology and spitzoid differentiation. The aim is to assess if familial melanoma cases associated with germline variants in TMG (POT1, ACD, TERF2IP, and TERT ) commonly exhibit spitzoid morphology.

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