Abstract
Genetic polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene may alter the risk of breast cancer. This study aimed to investigate the association of MTHFR C677T and A1298C genetic polymorphisms with breast cancer risk in case-control studies which was followed by stratified analysis. In the case-control study, 300 subjects including 150 women with breast cancer and 150 healthy women were enrolled. After blood sample collection, the C677T and A1298C polymorphisms genotyping were done by the PCR-RFLP method. Our data revealed a significant association between MTHFR C677T and A1298C polymorphisms and breast cancer risk. But, as a preliminary study, stratified analysis revealed no significant association between C677T and A1298C polymorphisms and tumor size and also lymph node metastasis in breast cancer. According to the mentioned findings, the C677T and A1298C polymorphisms in the MTHFR gene could be molecular risk factors for breast cancer in our studied population. However, further studies with larger sample sizes are required to obtain a more accurate conclusion in stratified analysis.
Highlights
Breast cancer is one of the most common causes of death in women worldwide (Bray et al, 2018)
This study aimed to investigate the association of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C genetic polymorphisms with breast cancer risk in case-control studies which was followed by stratified analysis
Mohammad Karimian et al above contradictory results, the purpose of this study is to determine the association of C677T and A1298C single nucleotide polymorphisms (SNPs) of the MTHFR gene with breast cancer risk in a case-control study which is followed by stratified analysis
Summary
Breast cancer is one of the most common causes of death in women worldwide (Bray et al, 2018). This malignancy is considered as the most prevalent cancer in women worldwide (Fares et al, 2019). Breast cancer is a complex and multifactorial disease that could be affected by various genetic and environmental factors. Genetic factors play an important role in tumor formation and progression. One of the important cellular pathways is the folate metabolism cycle which includes many genes such as methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR). The role of the MTHFR enzyme is to convert 5,10-methylenetetrahydrofolate (5,10-MTHF) to
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