Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis

IMPORTANCE: Li-Fraumeni syndrome is a cancer predisposition syndrome that is associated with a high, lifelong risk of a broad spectrum of cancers that is caused by pathogenic TP53 germline variants. A definition that reflects the broad phenotypic spectrum that has evolved since the gene discovery is...

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Detalles Bibliográficos
Autores principales: Kratz, Christian P., Freycon, Claire, Maxwell, Kara N., Nichols, Kim E., Schiffman, Joshua D., Evans, D. Gareth, Achatz, Maria I., Savage, Sharon A., Weitzel, Jeffrey N., Garber, Judy E., Hainaut, Pierre, Malkin, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Medical Association 2021
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8554692/
https://www.ncbi.nlm.nih.gov/pubmed/34709361
http://dx.doi.org/10.1001/jamaoncol.2021.4398

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