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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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: 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
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha: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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