Association ofrs4782447and risk of breast cancer in a cohort of Iranian breast cancer patients

Introduction & Aim: Deletion of 16q12 locus, as a critical region, is associated with risk of breast cancer. 16q12 risk locus includes a tumour suppressor gene named TOX3. An interaction between a FOXA1-binding site and the promoter of TOX3 gene has been reported which can modulate breast cancer risk. There is a single nucleotide polymorphism (SNP), rs4782447, located at the 16q12 which results in the FOXA1 binding sequence alteration and therefore may promote affinity of FOXA1 binding to the promoter of TOX3 gene. The aim of this study was to investigate the association between rs4782447 and breast cancer risk in a group of Iranian breast cancer patients, as to our best of knowledge this has not been studied so far.Methods: We genotyped 308 healthy individuals and also 306 breast cancer patients using polymerase chain reaction (PCR) based allelic discrimination method.Results: Among controls, 114 samples (37.01%) had GG genotype, 160 samples (51.94%) had GA genotype and 34 samples (11.03%) had homozygous AA genotype. Genotype frequencies in patients were also as follows: 109 samples (35.62%) GG, 166 samples (54.24%) GA and 31 (10.13%) AA genotype. The frequency of A allele in controls and patients was almost similar (0.37); OR: 1.01 CI: 0.80-1.27; P-value: 0.930.Conclusion: rs4782447 may not be regarded as a risk factor for breast cancer in our population.

کلیدواژه ها:

TOX3 ، FOXA1 ، breast carcinoma ، genotype distribution