Abstract
Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors, one of which includes genetic factors such as the PIN3 16-bp duplication polymorphism of TP53. 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. Using AS-PCR, we analyzed the PIN3 16-bp duplication polymorphism in blood samples of 60 Malian breast cancer and 60 healthy Malian women (Age-matched study). In this study, no correlation was observed between the PIN3 16-bp duplication polymorphism and clinic-pathological characteristics in the breast cancer patients except histological types (P= 0.04). The genotypic frequency distribution was 45.0% A1A1, 41.7% A1A2, 13.3% A2A2 in cases and 65.0% A1A1, 26.7% A1A2, 8.3% A2A2 in controls. Allele frequencies in cases and controls were 65.8% A1, 34.2% A2 and 78.3% A1, 21.7% A2. respectively. The A1A2 heterozygous genotype was associated with an increased risk of breast cancer with (OR = 2.25, 95% CI = 1.01-5.01 and p = 0.04). According genetic models, a significant association of PIN3 16-bp duplication polymorphism with breast cancer risk was observed in dominant (A1A2+A2A2 vs. A1A : 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 in the recessive model (A2A2 vs. A1A1+A1A2: 1.69 = 0.52-5.50; P = 0.38). The case-control study showed that PIN3 16-bp duplication polymorphism of TP53 may be a significant risk factor for breast cancer in Malian women.