Article
TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis.
Journal of medical genetics - 1 Nov 2009
Marcel V, Palmero E I, Falagan-Lotsch P, Martel-Planche G, Ashton-Prolla P, Olivier M, Brentani R R, Hainaut P, Achatz M I
Abstract excerpt
BACKGROUND: Li-Fraumeni and Li-Fraumeni-like syndromes (LFS/LFL), characterised by the development of multiple early onset cancers with heterogeneous tumour patterns, are associated with germline TP53 mutations. Polymorphisms in the TP53 pathway (TP53 PEX4 at codon 72, rs1042522; MDM2 SNP309, rs2279744) have modifier effects on germline TP53 mutations that may account for the individual and familial diversity of...
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