MDM4: What do we know about the association between its polymorphisms and cancer?

MDM4 is an important p53-negative regulator, consequently, it is involved in cell proliferation, DNA repair, and apoptosis regulation. MDM4 overexpression and amplification are described to lead to cancer formation, metastasis, and poor disease prognosis. Several MDM4 SNPs are in non-coding regions, and some affect the MDM4 regulation by disrupting the micro RNA binding site in 3'UTR (untranslated region). Here, we gathered several association studies with different MDM4 SNPs and populations to understand the relationship between its SNPs and solid tumor risk. Many studies failed to replicate their results regarding different populations, cancer types, and risk genotypes, leading to conflicting conclusions. We suggested that distinct haplotype patterns in different populations might affect the association between MDM4 SNPs and cancer risk. Thus, we propose to investigate some linkage SNPs in specific haplotypes to provide informative MDM4 markers for association studies with cancer.

Automated summary

MDM4 plays an important role in cell proliferation, DNA repair, and apoptosis regulation, and its overexpression and amplification lead to cancer formation and poor prognosis. The association between different MDM4 SNPs and solid tumor risk has conflicting conclusions across different populations, cancer types, and risk genotypes. Distinct haplotype patterns in different populations may affect the association between MDM4 SNPs and cancer risk.