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Yasmine Zerdoumi, Juliette Aury-Landas, Catherine Bonaïti-Pellié, Céline Derambure, Richard Sesboüé, Mariette Renaux-Petel, Thierry Frebourg, Gaëlle Bougeard and Jean-Michel Flaman Drastic Effect of Germline TP53 Missense Mutations in Li–Fraumeni Patients Human Mutation 34

Version of Record online: 11 FEB 2013 | DOI: 10.1002/humu.22254

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This manuscript describes a new functional assay of the p53 pathway, based on induction of DNA damage in EBV-immortalized lymphocytes, followed by comparative gene expression profiling. In lymphocytes from Li-Fraumeni (LFS) patients with canonical missense mutations, the number of induced genes and the level of known p53 target genes induction are strongly reduced, as compared with controls and LFS lymphocytes with null mutations. These results show that certain germline missense TP53 mutations, such as those with dominant negative effect, dramatically alter the response to DNA damage.

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