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Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families

Archive ouverte | Bougeard, Gaëlle | CCSD

International audience. We have performed an extensive analysis of TP53 in 474 French families suggestive of Li-Fraumeni syndrome (LFS), including 232 families fulfilling the Chompret criteria. We identified a germl...

Germline \textitBAP1 mutations predispose to renal cell carcinomas

Archive ouverte | Popova, T. | CCSD

International audience

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort

Archive ouverte | Lavoine, N | CCSD

International audience

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