• What is TP53?
  • TP53 in Myelodysplastic Syndromes
  • Clinical Trials


Tumor protein p53 (TP53) is a gene that codes for a tumor suppressor protein. The protein regulates expression of genes involved in cell cycle arrest, apoptosis, senescence, DNA repair, and changes in metabolism (Gene 2014). In cancer, TP53’s normal roles are not fulfilled, leading to cell survival, DNA damage, and cell proliferation. TP53 is the most frequently mutated gene in cancer; it is mutated in about half of all cancers (Genetics Home Reference 2014). TP53 is most frequently mutated in ovarian, colon, and esophageal cancers, although it is significantly mutated in many other cancer types (COSMIC).

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Contributors: Stephen A. Strickland, M.D., MSCI, Annette S. Kim, M.D., Ph.D.

Suggested Citation: Strickland, S., A. Kim. 2015. TP53. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/tp53/?tab=0 (Updated December 4).

Last Updated: December 4, 2015

TP53 in Myelodysplastic Syndromes

TP53 mutations occur in 9.0% of MDS (COSMIC). TP53 mutations are most often observed in patients with advanced disease or whose tumors harbor a complex karyotype, chromosome 17 abnormalities, chromosome 5 deletions, or chromosome 7 deletions (Cazzola, Della Porta, and Malcovati 2013). The role of TP53 mutations in MDS is not yet well understood. These mutations are found spread throughout the gene.

TP53 mutations are a prognostic biomarker for decreased overall survival and have been associated with a higher likelihood of transformation to AML (Bejar et al. 2011; Cazzola, Della Porta, and Malcovati 2013; NCCN 2014). In addition, Bejar et al. (2014) observed that TP53 mutations predict shorter overall survival following hematopoietic stem cell transplantation. In MDS with chromosome 5 deletions, TP53 mutations have been associated with poor response to the drug lenalidomide, a thalidomide analog (Cazzola, Della Porta, and Malcovati 2013).​

Contributors: Stephen A. Strickland, M.D., MSCI, Annette S. Kim, M.D., Ph.D.

Suggested Citation: Strickland, S., A. Kim. 2014. TP53 in Myelodysplastic Syndromes. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/tp53/ (Updated September 23).

Last Updated: September 23, 2014

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