Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis

Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome associated with germline TP53 pathogenic variants. Here, we perform whole-genome sequence (WGS) analysis of tumors from 22 patients with TP53 germline pathogenic variants. We observe somatic mutations affecting Wnt, PI3K/AKT s...

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Detalles Bibliográficos
Autores principales: Light, Nicholas, Layeghifard, Mehdi, Attery, Ayush, Subasri, Vallijah, Zatzman, Matthew, Anderson, Nathaniel D., Hatkar, Rupal, Blay, Sasha, Chen, David, Novokmet, Ana, Fuligni, Fabio, Tran, James, de Borja, Richard, Agarwal, Himanshi, Waldman, Larissa, Abegglen, Lisa M., Albertson, Daniel, Finlay, Jonathan L., Hansford, Jordan R., Behjati, Sam, Villani, Anita, Gerstung, Moritz, Alexandrov, Ludmil B., Somers, Gino R., Schiffman, Joshua D., Rotter, Varda, Malkin, David, Shlien, Adam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9816166/
https://www.ncbi.nlm.nih.gov/pubmed/36604421
http://dx.doi.org/10.1038/s41467-022-35727-y

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