A genetic polymorphism in rs1801133 in MTHFR, rs10811661 in CDKN2A/B genes associated with breast cancer

Methylenetetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, encoded by the MTHFR gene. MTHFR plays a key role in homocysteine plasma level and is associated with the risk of breast cancer. The CDKN2A/B is the tumour suppressor in cell cycle regulation. The single nucleotide polymorphism (SNP) is thought to be associated with the predisposition of breast cancer and subsequent immune response in the different populations. The aim of present study is the evaluation of rs10811661and rs 1801133 SNPs in CDKN2A/B and MTHFR with the risk of breast cancer in patients with carcinoma of breast and controls. The TaqMan real time PCR technique was applied for genotyping of participants. The correlation of both variants and demographic data were investigated with the risk of breast cancer. Our data showed that the MTHFR allele T and TT genotype had the higher prevalent in patients (p value=0.0001) and (p value=0.003) than control group. Also, the CDKN2A/B allele CC genotype had the higher prevalent in patients (p value=0.003) than control group. Indeed, the correlations of menarche and underlying hormonal disorder with the risk of breast cancer were evaluated, also our result confirm the correlation of breast cancer with CDKN2A/B rs10811661. Our investigations demonstrated that the MTHFR rs180113 could be used as prognostic factor.

Keywords:

Breast cancer , MTHFR gene , CDKN2A/B gene , Polymorphism