Article
Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome.
Oncogene - 3 Sept 1998
Birch J M, Blair V, Kelsey A M, Evans D G, Harris M, Tricker K J, Varley J M
Abstract excerpt
The Li-Fraumeni cancer predisposition syndrome is associated with germline TP53 mutations in the majority of families. We have investigated cancer incidence in 34 Li-Fraumeni families, according to their constitutional TP53 mutation status. Families with germline missense mutations in the core DNA binding domain showed a more highly penetrant cancer phenotype than families with other TP53 mutations or no...
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