Effect of TP53 16-bp and β-TrCP 9-bp INS/DEL polymorphisms in relation to risk of breast cancer

P53 as a tumor suppressor and an apoptosis modulator, is the regulator of the cell cycle and apoptosis, and contributes to mammary gland development and breast cancer (BC) progression. BTRC gene (Homo sapiens beta-transducing repeat containing E3 ubiquitin protein ligase) encoded protein, β-TrCP, is a novel regulator of p53. The current study aimed to assess the possible effects of TP53 IVS3 16bp (rs17878362) and β-TrCP 9bp (rs16405) INS/DEL polymorphisms on BC risk in an Iranian population. A total of 439 women including 236 BC patients and 203 healthy women were recruited. The TP53 and β-TrCP INS/DEL polymorphisms were genotyped by allele-specific polymerase chain reaction method. Our data demonstrated that the TP53 16-bp INS/DEL variation was associated with an increased risk of BC in codominant (INS/INS vs. DEL/DEL: OR=1.82; 95% CI=1.02–3.23; P=0.042) and dominant (Del/INS+INS/INS vs. DEL/DEL: OR=1.48; 95% CI=1.03–2.21; P=0.044) models. Additionally, the variant allele (INS) of TP53 DEL/INS polymorphism with a relatively higher frequency in cases than in controls (35.6 vs. 27.8) was a risk factor for BC (OR=1.43; 95% CI=1.06–1.93; P=0.017). With respect to β-TrCP INS/DEL polymorphism, our study failed to find any difference in allele and genotype distribution between BC patients and controls in codominant, dominant and recessive tested inheritance models (P>0.05). Furthermore, no significant association among the β-TrCP and TP53 genotype distribution and clinical characteristics of BC patients were found (P>0.05). Our findings suggest that the TP53 16-bp INS/INS and DEL/INS+INS/INS genotypes as well as the INS allele could be genetic factors related to BC risk. •We evaluated two polymorphisms of TP53 and β-TrCP (16-bp, and 19-bp) on BC risk.•The TP53 and β-TrCP INS/DEL were genotyped by AS-PCR and RFLP methods.•TP53 16-bp INS/DEL variation increased the risk of BC.•β-TrCP INS/DEL polymorphism was not associated with the risk of BC.•Our findings suggested that TP53 16-bp INS/DEL was a risk factor for BC.