Association of PIN3 16-bp Duplication Polymorphism of TP53 gene with Breast Cancer Risk in Mali and A Meta-analysis.

Abstract Background Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53 gene. The aim of our study was to evaluate the role of the PIN3 16-bp duplication polymorphism in the susceptibility to breast cancer in the Malian population and to perform a meta-analysis to better understand the correlation with data from other populations.Methods We analyzed the PIN3 16-bp duplication polymorphism in blood samples of 60 Malian women with breast cancer and 60 healthy appearing Malian women using PCR. In addition, we performed a meta-analysis of data from case-control studies published in articles retrieved from international databases (Pubmed, Harvard University Library, Genetics Medical Literature Database, Genesis Library and Web of Science). Overall, odds ratio (OR) with 95% CI from fixed and random effects models were determined. Inconsistency was used to assess heterogeneity between studies and publication bias was estimated using the funnel plot.ResultsIn the Malian patients studied here, a significant association of PIN3 16-bp duplication polymorphism with breast cancer risk was observed in dominant (A1A2+A2A2 vs. A1A1: OR = 2.26, CI 95% = 1.08-4.73; P = 0.02) and additive (A2 vs. A1: OR =1.87, CI 95% = 1.05-3.33; P = 0.03) models, but not the recessive model ( P = 0.38). In the meta-analysis, nineteen (19) articles were included with a total of 6,018 disease cases and 4,456 controls. Except for the dominant model ( P = 0.15), an increased risk of breast cancer was detected with the recessive (OR=1.46, 95% CI = 1.15-1.85; P = 0.002) and additive (OR = 1.11, 95% CI = 1.02-1.19; P = 0.01) models.Conclusion The Malian case-control study suggests that PIN3 16-bp polymorphism duplication of TP53 gene is an important risk factor for breast cancer in Malian women. These data are supported by the meta-analysis of broader ethnic and population groups.