Somatic TP53 variants frequently confound germline testing results

PURPOSE: Blood/saliva DNA is thought to represent the germline in genetic cancer risk assessment. Cases with pathogenic TP53 variants detected by multi-gene panel tests (MGPT) are often discordant with Li-Fraumeni Syndrome (LFS), raising concern about misinterpretation of acquired aberrant clonal ex...

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Detalles Bibliográficos
Autores principales: Weitzel, Jeffrey N., Chao, Elizabeth C., Nehoray, Bita, Van Tongeren, Lily R., LaDuca, Holly, Blazer, Kathleen R., Slavin, Thomas, Pesaran, Tina, Rybak, Christina, Solomon, Ilana, Niell-Swiller, Mariana, Dolinsky, Jill S., Castillo, Danielle, Elliott, Aaron, Gau, Chia-Ling, Speare, Virginia, Jasperson, Kory
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976505/
https://www.ncbi.nlm.nih.gov/pubmed/29189820
http://dx.doi.org/10.1038/gim.2017.196

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976505/
https://www.ncbi.nlm.nih.gov/pubmed/29189820
http://dx.doi.org/10.1038/gim.2017.196

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