Li– Fraumeni syndrome

The c.451C>Tmutation is a high-frequency pathogenic variant classified as a “hotspot” mutation, as it occurs in more than half of human cancer types.
This variant is located within the DNA-binding domain of TP53 and results in a loss of function, thereby contributing to cancer progression. Another variant at the same position,
c.451 C>A mutation /recognized as pathogenic and is well documented in Li– Fraumeni syndrome.p.Pro151Thr, is also recognized as pathogenic and is well documented in Li– Fraumeni syndrome.