Article
TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.
Familial cancer - 1 Jan 2009
Pinto Carla, Veiga Isabel, Pinheiro Manuela, Peixoto Ana, Pinto Armando, Lopes José M, Reis Rui M, Oliveira Carla, Baptista Manuela, Roque Lúcia, Regateiro Fernando, Cirnes Luís, Hofstra Robert M W, Seruca Raquel, Castedo Sérgio, Teixeira Manuel R
Abstract excerpt
The Li-Fraumeni syndrome (LFS) is a rare, autosomal dominant disease caused by TP53 germline mutations. This study aimed to characterize the TP53 mutational spectrum in patients suspected to have LFS in Portugal and to evaluate the influence of the MDM2-SNP309 and TP53-72Arg variants and of telomere length on age of tumor onset. Probands were primarily selected using the classical LFS criteria (two cases) or the...
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