Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants

Pathogenic or likely pathogenic (P/LP) germline TP53 variants are the primary cause of Li-Fraumeni syndrome (LFS), a hereditary cancer predisposition disorder characterized by early-onset cancers. The population prevalence of P/LP germline TP53 variants is estimated to be approximately one in every...

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Detalles Bibliográficos
Autores principales: de Andrade, Kelvin C., Strande, Natasha T., Kim, Jung, Haley, Jeremy S., Hatton, Jessica N., Frone, Megan N., Khincha, Payal P., Thone, Gretchen M., Mirshahi, Uyenlinh L., Schneider, Cynthia, Desai, Heena, Dove, James T., Smelser, Diane T., Levine, Arnold J., Maxwell, Kara N., Stewart, Douglas R., Carey, David J., Savage, Sharon A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10589747/
https://www.ncbi.nlm.nih.gov/pubmed/37777824
http://dx.doi.org/10.1016/j.xhgg.2023.100242

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