Variable population prevalence estimates of germline TP53 variants: a gnomAD-based analysis

Reports of variable cancer penetrance in Li-Fraumeni syndrome (LFS) have raised questions regarding the prevalence of pathogenic germline TP53 variants. We previously reported higher-than-expected population prevalence estimates in sequencing databases composed of individuals unselected for cancer h...

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Publicado en:Hum Mutat
Autores principales: de Andrade, Kelvin C., Frone, Megan N., Wegman-Ostrosky, Talia, Khincha, Payal P., Kim, Jung, Amadou, Amina, Santiago, Karina M., Fortes, Fernanda P., Lemonnier, Nathanaël, Mirabello, Lisa, Stewart, Douglas R., Hainaut, Pierre, Kowalski, Luiz P., Savage, Sharon A., Achatz, Maria I.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2018
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6296902/
https://ncbi.nlm.nih.gov/pubmed/30352134
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23673
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