Single nucleotide polymorphisms (SNPs) may be causally related to breast cancer risk or be indirectly associated with breast cancer risk through linkage disequilibrium with a causal sequence variant. Risk-associated SNPs will have different frequencies among women with or without breast cancer and can be detected using genetic association studies. Recently, several genome-wide association studies (GWAS) have identified novel risk alleles for breast cancer including those related to FGFR2, TNRC9, MAP3K1, LSP1 genes and other locus. Replication in independent population samples is essential for validation of the results of any genome-wide association. Since the genetic variants (SNPs) are common, they are likely to be shared across different populations with diverse ancestry backgrounds. It would be of interest to determine and investigate the potential implications of these novel markers revealed by genome-wide association studies to predict the “sporadic” breast cancer risk and progression in MENA populations.

Using TaqMan® SNP genotyping assays, we characterize the variation of 9 SNPs (include rs1219648, rs2981582, rs8051542, rs12443621, rs3803662, rs889312, rs3817198, rs13387042 and rs13281615) for 520 patients with sporadic breast cancer and 360 healthy controls in the Tunisian population. The association between the genotypes and breast cancer susceptibility and tumors characteristics was estimated by computing odds ratio (OR) and 95% confidence levels from logistic regression analyses. Association of the genetic marker with the rates of breast cancer overall survival was assessed using univariate analysis.

Two genetic variants in FGFR2 are significantly associated with the risk of breast cancer: rs1219648 AG/GG (OR=1.23, P=0.002) and rs2981582 AG/ AA (OR=1.33, P=0.003). Two significantly increased risks of breast cancer were respectively associated with T allele of rs8051542 in TNRC9 (OR=1.43, P=0.0003) and C allele of rs889312 in MAP3K1 (OR=1.33, P=0.006). The AG and GG genotypes of rs2981582 in FGFR2 have a significant association with a high risk of lymph node metastasis and a decreased overall survival in breast cancer patients.

Our results for the first time replicated the results of breast cancer GWAS in the Arabic population and indicated that some polymorphisms are associated with increased breast cancer risk and disease progress in the Tunisian population.


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