In Brazil, there is a higher than the global incidence of Li-Fraumeni syndrome due to the presence of the founder mutation in the TP53 gene (30), c.1010G>A;p.Arg337His (p.R337H), which occurs at a frequency of 0.3% in the South and Southeast of the country (31). The gene discussed is TP53; the disease is Li-Fraumeni syndrome.