The impact of CYP19A1 variants and haplotypes on breast cancer risk, clinicopathological features and prognosis

BACKGROUND: Different genetic variants in hormone‐regulating pathways have been identified to influence the risk of breast cancer. This study aimed to evaluate the association of CYP19A1 rs10046 and rs700519 polymorphisms with the risk, clinicopathological factors and prognosis of breast cancer. METHODS: In a case‐control study, rs10046 and rs700519 polymorphisms were genotyped using ARMS‐PCR and high‐resolution melting (HRM), respectively, in a total of 702 females. Statistical analysis and evaluation of haplotypes and linkage disequilibrium were performed using SPSS v16, PHASE and 2LD. RESULTS: Although no association of rs700519 with breast cancer was observed, rs10046 in different genetic models as well as C‐C/C‐T and C‐C/C‐C diplotypes, revealed the association with the risk of breast cancer (p < 0.05). Moreover, the rs700519‐C allele was shown to be associated with longer overall survival. In contrast, the T‐T haplotype conferred s a shorter overall survival. rs700519‐C allele was also significantly associated with menarche age. CONCLUSION: Based on the identified independent association between CYP19A1 diplotypes and rs700519‐C allele with the risk and prognosis of the disease, the gene region and its genetic variants may have a diagnostic and prognostic role in breast cancer development. Further confirmation using other variants in this locus can validate these findings.