A rare germline CDKN2A variant (47T>G; p16-L16R) predisposes carriers to pancreatic cancer by reducing cell cycle inhibition

Germline mutations in CDKN2A, encoding the tumor suppressor p16, are responsible for a large proportion of familial melanoma cases and also increase risk of pancreatic cancer. We identified four families through pancreatic cancer probands that were affected by both cancers. These families bore a ger...

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Detalles Bibliográficos
Autores principales: Horn, Isaac P., Marks, David L., Koenig, Amanda N., Hogenson, Tara L., Almada, Luciana L., Goldstein, Lauren E., Romecin Duran, Paola A., Vera, Renzo, Vrabel, Anne M., Cui, Gaofeng, Rabe, Kari G., Bamlet, William R., Mer, Georges, Sicotte, Hugues, Zhang, Cheng, Li, Hu, Petersen, Gloria M., Fernandez-Zapico, Martin E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8121974/
https://www.ncbi.nlm.nih.gov/pubmed/33823155
http://dx.doi.org/10.1016/j.jbc.2021.100634

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