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Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history.

Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer disorder associated with pathogenic germline variants in TP53, with a high penetrance over an individual`s lifetime. The actual population prevalence of pathogenic germline TP53 mutations is still unclear. The aim of this study was to estima...

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Bibliografski detalji
Izdano u:Hum Mutat
Glavni autori: de Andrade, Kelvin C., Mirabello, Lisa, Stewart, Douglas R., Karlins, Eric, Koster, Roelof, Wang, Mingyi, Gapstur, Susan M., Gaudet, Mia M., Freedman, Neal D., Landi, Maria T., Lemonnier, Nathanaël, Hainaut, Pierre, Savage, Sharon A., Achatz, Maria I.
Format: Artigo
Jezik:Inglês
Izdano: 2017
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6858060/
https://ncbi.nlm.nih.gov/pubmed/28861920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23320
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