A Pathogenic Mosaic TP53 Mutation in Two Germ Layers Detected by Next Generation Sequencing

BACKGROUND: Li-Fraumeni syndrome is caused by germline TP53 mutations and is clinically characterized by a predisposition to a range of cancers, most commonly sarcoma, brain tumours and leukemia. Pathogenic mosaic TP53 mutations have only rarely been described. METHODS AND FINDINGS: We describe a 2...

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Hauptverfasser: Behjati, Sam, Maschietto, Mariana, Williams, Richard D., Side, Lucy, Hubank, Mike, West, Rebecca, Pearson, Katie, Sebire, Neil, Tarpey, Patrick, Futreal, Andrew, Brooks, Tony, Stratton, Michael R., Anderson, John
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2014
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4014518/
https://ncbi.nlm.nih.gov/pubmed/24810334
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0096531
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