Article
Drastic effect of germline TP53 missense mutations in Li-Fraumeni patients.
Human mutation - 1 Mar 2013
Zerdoumi Yasmine, Aury-Landas Juliette, Bonaïti-Pellié Catherine, Derambure Céline, Sesboüé Richard, Renaux-Petel Mariette, Frebourg Thierry, Bougeard Gaëlle, Flaman Jean-Michel
Abstract excerpt
In contrast to other tumor suppressor genes, the majority of TP53 alterations are missense mutations. We have previously reported that in the Li-Fraumeni syndrome (LFS), germline TP53 missense mutations are associated with an earlier age of tumor onset. In a larger series, we observed that mean age of tumor onset in patients harboring dominant negative missense mutations and clearly null mutations was 22.6 and...
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