Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation.


Maria Candida Barisson Villares Fragoso


Unidade de Suprarrenal, Laboratorio de Hormonios e Genetica Molecular LIM42, Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Brasil. Electronic address: [Email]


The TP53 p.R337H germline mutation is highly prevalent among children with adrenocortical tumors (ACTs) from South and Southeast Brazil. However, the prevalence of other tumors of the Li-Fraumeni syndrome (LFS) and Li-Fraumeni-like syndrome (LFL) spectrum, the clinical outcomes and the potential tumor occurrence in relatives carrying this distinct TP53 mutation were not fully investigated.


Li-Fraumeni syndrome,P.R337H mutation,Pediatric adrenocortical tumor,TP53 gene,