Population-based analysis of POT1 variants in a cutaneous melanoma case–control cohort

Pathogenic germline variants in the protection of telomeres 1 gene (POT1) have been associated with predisposition to a range of tumour types, including melanoma, glioma, leukaemia and cardiac angiosarcoma. We sequenced all coding exons of the POT1 gene in 2928 European-descent melanoma cases and 32...

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Detalles Bibliográficos
Autores principales: Simonin-Wilmer, Irving, Ossio, Raul, Leddin, Emmett M, Harland, Mark, Pooley, Karen A, Martil de la Garza, Mauricio Gerardo, Obolenski, Sofia, Hewinson, James, Wong, Chi C, Iyer, Vivek, Taylor, John C, Newton-Bishop, Julia A, Bishop, D Timothy, Cisneros, Gerardo Andrés, Iles, Mark M, Adams, David J, Robles-Espinoza, Carla Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Cancer Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10279804/
https://www.ncbi.nlm.nih.gov/pubmed/36539277
http://dx.doi.org/10.1136/jmg-2022-108776

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