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Article

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

29 May 2008

Abstract excerpt

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 germline alteration of TP53 in 82 families (17%), in 67/232 of the families fulfilling the Chompret criteria (29%) and in 15/242 which did not fulfil these criteria (6%). Most of the alterations corresponded to missense mutations...

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PMID: 18511570
DOI: 10.1136/jmg.2008.057570

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