Meta-Analysis of BRCA1 Polymorphisms and Breast Cancer Susceptibility


Klin Onkol 2018; 31(5): 330-338. DOI: 10.14735/amko2018330.

Background: BRCA1 codes for a tumor suppressor protein involved in DNA repair. Based on the role of single nucleotide polymorphisms (SNPs) in the modification of gene expression and function and the existence of certain SNPs within 3’-untranslated region of BRCA1 with the ability to change binding sites for mirRNAs, several association studies have been designed to explore the significance of SNPs within BRCA1 gene in conferring breast cancer (BC) risk. This study aims to assess the relationship between BRCA1 SNPs and BC using meta-analysis. Aim: To conduct a meta-analysis for retrieving case-control studies on the associations between the rs11655505, rs1799966, rs3737559, rs1799950, rs799917 and rs16941 BRCA1 polymorphisms and BC. The pooled odds ratios and its 95% confidence intervals were measured using fixed and random model to define the association between these polymorphisms and BC risk. Conclusion: No significant association was found for any of these polymorphisms and BC risk in the allelic, homozygote, dominant or recessive models. Overall, our study implies that the mentioned polymorphisms are not associated with BC risk. However, our study did not exclude the possible contribution of other SNPs within this gene in BC nor substantial contribution of multiple variants within this gene in conferring BC risk.

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