TP53 has a regulating function in various signaling pathways such as apoptosis and cell cycle arrest. Activation of the p53 protein occurs in response to DNA damage or stress conditions leading to activation or repression of its target genes which in their way cause cell cycle arrest and apoptosis.

Missense mutations as well as deletions or insertions are found in TP53 and mostly result in loss of function of p53. These mutations disrupt the ability of p53 to bind to its target sequences and thereby prevent cell cycle arrest and apoptosis.

Variants in TP53 are found in a variety of hematological malignancies such as acute myeloid leukemia (AML), myelodysplastic syndromes (MDS) and chronic lymphatic leukemia (CLL). Sanquin diagnostics is a certified center by the European Research Initiative on CLL (ERIC) for analysis of TP53 gene mutations.