Abstract
Background P53 is a tumor suppressor gene and plays important role in the etiology of breast cancer. Intron 3 sixteen-bp duplication polymorphism of p53 has been reported to be associated with breast cancer risk. However, the reported results remain conflicting rather than conclusive.MethodsA meta-analysis including 19 case-control studies was performed to address this issue. Odds ratios (ORs) with 95% confidence intervals (CIs) were adopted to evaluate the association.ResultsThe overall results suggested that the variant genotypes were associated with a significantly increased breast cancer risk (Del/Ins vs Del/Del: OR = 1.18, 95% CI: 1.00–1.40; Ins/Ins vs Del/Del: OR = 1.42, 95% CI = 1.09–1.84; Ins/Ins+Del/Ins vs Del/Del: OR = 1.21, 95% CI = 1.03–1.41). When stratifying by sample size of studies, a significantly elevated risk was also observed among large sample studies (>500 subjects) but not among small sample studies (≤500 subjects).ConclusionThese results suggested that the 16-bp duplication polymorphism of p53 may contribute to susceptibility to breast cancer. Additional well-designed large studies were required to validate this association in different populations.
Highlights
Breast cancer is the most commonly diagnosed cancer and a predominate cause of death in female population worldwide [1]
Gemignani et al [10] found that the 16-bp Ins allele led to lower level of p53 transcript, suggesting that this polymorphism causes an alteration in messenger RNA (mRNA) processing, which provides a possible molecular basis for the associated increased risk of developing cancer
Given the important role of p53 in multiple cellular functions, such as DNA repair and apoptosis, it is biologically plausible that genetic variations of p53 gene may modulate the risk of breast cancer
Summary
Breast cancer is the most commonly diagnosed cancer and a predominate cause of death in female population worldwide [1]. It is reported that the p53 gene is mutated in 20%– 30% of the sporadic breast cancer [5]. These mutations can affect the functions of p53 protein as a transcription factor, and many crucial functions such as DNA repair, cell cycle control, and apoptosis may be altered. Gemignani et al [10] found that the 16-bp Ins allele led to lower level of p53 transcript, suggesting that this polymorphism causes an alteration in mRNA processing, which provides a possible molecular basis for the associated increased risk of developing cancer. Intron 3 sixteen-bp duplication polymorphism of p53 has been reported to be associated with breast cancer risk.
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