TP53 and Li-Fraumeni syndrome: Despite the earlier discovery by the same Medical Genetics Unit of the c.645del PV, located in the TP53 gene, in a family with Li-Fraumeni syndrome [34], in this study, the most frequently identified genetic variant in the TP53 gene, found in two patients, was the c.827C>A variant, with a frequency of 0.33 (2/6).