Article
Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis.
Nature communications - 5 Jan 2023
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
Abstract excerpt
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 signaling, epigenetic modifiers and homologous recombination genes as well as mutational signatures associated with...
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