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Common genetic variants in the TP53 pathway and their impact on cancer

Thibaut Barnoud1, Joshua L D Parris1,2, Maureen E Murphy1

  • 1Program in Molecular and Cellular Oncogenesis, The Wistar Institute, Philadelphia, PA, USA.

Journal of Molecular Cell Biology
|June 2, 2019
PubMed

Insights

Single nucleotide polymorphisms (SNPs) in TP53 and MDM2 impact cancer. This review explores pathogenic SNPs, their role in cancer risk and therapy, and their use in personalized medicine.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • TP53 is the most frequently mutated gene in human cancers.
  • Over 20 coding region single-nucleotide polymorphisms (SNPs) exist in TP53, alongside SNPs in MDM2, a key regulator of p53.
  • Unlike other cancer-critical genes, TP53 harbors functional non-synonymous coding region SNPs.

Purpose of the Study:

  • To review SNPs in TP53 and MDM2 with significant impacts on cancer and other diseases.
  • To identify pathogenic SNPs and their influence on cancer risk and therapeutic efficacy.
  • To propose applications of this knowledge for personalized cancer medicine.

Main Methods:

  • Literature review of SNPs in TP53 and MDM2.
  • Analysis of functional impact of SNPs on p53 pathway.
  • Exploration of clinical relevance for cancer risk and treatment.

Main Results:

  • Several TP53 and MDM2 SNPs alter p53 pathway function.
  • These SNPs are implicated in cancer development and progression.
  • The functional impact of specific SNPs on cancer risk and therapy efficacy is under investigation.

Conclusions:

  • TP53 and MDM2 SNPs represent a critical area for understanding cancer etiology and progression.
  • Identifying and characterizing pathogenic SNPs is crucial for personalized medicine.
  • Tailoring chemotherapy based on individual SNP profiles holds promise for improved cancer treatment outcomes.
Keywords:
MDM2PASPro47SerPro72ArgSNP309p53

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