Genotype Versus Phenotype: The Yin and Yang of Germline TP53 Mutations in Li-Fraumeni Syndrome

Abstract excerpt

Li Fraumeni syndrome (LFS) is one of the most well-recognized cancer predisposition syndromes and serves as a paradigm for the study of heritable susceptibility to cancer. LFS was first reported in 1969 by Li and Fraumeni on the basis of the identification of four families characterized by the autosomal dominant transmission of early-onset tumors. 1,2 5] In 1990, it was determined that LFS is caused by...

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