- Gene affected: TP53 - the name relates to its molecular mass initially detected by protein electrophoresis: 53kDa
- Clinical significance Mutation is relatively infrequent generally in AML (and has uncertain significance), however incidence of mutated p53 protein increases in treatment related AML so may play a role in treatment resistance. It is seen particularly in complex karyotype AML where it is recognised to mediate adverse outcome. Mutation occurs also in CML and in MDS (associated with adverse outcome).
Function of gene
TP53 is a key tumor suppressor protein involved in maintenance of genomic stability, including regulation of cellular senescence, apoptosis, metabolism, and DNA repair. In hematopoietic stem cells p53 regulates the quiescence and self-renewal.
NGS panel gene coverage
Associated genetic features:
Appears mutually exclusive with other frequently mutated genes (NPM1, FLT3, MDM2, ARF and DNMT3A mutation).
- GeneWiki link: