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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014518/
https://www.ncbi.nlm.nih.gov/pubmed/24810334
http://dx.doi.org/10.1371/journal.pone.0096531

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