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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Detaylı Bibliyografya
Yayımlandı:Hum Mutat
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2017
Konular:
Article
Online Erişim: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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