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• W2121010990 abstract "We have performed an extensive analysis of <i>TP53</i> in 474 French families suggestive of Li–Fraumeni syndrome (LFS), including 232 families fulfilling the Chompret criteria. We identified a germline alteration of <i>TP53</i> 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 (67%), and we identified in four families genomic deletions removing the entire <i>TP53</i> locus, the promoter and the non-coding exon 1, or exons 2–10. These results represent a definitive argument demonstrating that LFS results from <i>TP53</i> haplodeficiency. The mean ages of tumour onset were significantly different between patients harbouring <i>TP53</i> missense mutations and other types of alterations, missense mutations being associated with a 9 year earlier tumour onset. These results confirm that missense mutations not only inactivate p53 but also have an additional oncogenic effect. Germline alterations of <i>TP53</i> that lead exclusively to loss of function are therefore associated with a later age of tumour onset and the presence of such mutations should be considered in atypical LFS families with tumours diagnosed after 40 years." @default.
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• W2121010990 date "2008-05-02" @default.
• W2121010990 modified "2023-10-17" @default.
• W2121010990 title "Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families" @default.
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• W2121010990 doi "https://doi.org/10.1136/jmg.2008.057570" @default.
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