Abstract

BackgroundStudies investigating the association between the methylenetetrahydrofolate reductase (MTHFR) gene 1298A>C polymorphism and the risk of breast cancer have reported inconsistent results. So, we performed this updated meta-analysis and tried to give a more precise estimation of association between MTHFR gene 1298A>C polymorphism and breast cancer susceptibility.MethodsRelevant studies published before 1 January 2016 were identified by searching PubMed and EMBASE. The strength of relationship between the MTHFR gene 1298A>C polymorphism and breast cancer susceptibility was assessed using odds ratio (OR) and corresponding 95 % confidence interval (95 % CI). The meta-analysis was performed using Stata 11.0 software.ResultsA total number of 38 case-control studies including 18,686 cases and 22,299 controls were identified. No association was found in five genetic models (dominant model: OR = 0.99, 95 % CI 0.99–1.00, P = 0.218; recessive model: OR = 1.00, 95 % CI 0.97–1.02, P = 0.880; homozygote genetic model: OR = 0.99, 95 % CI 0.98–1.01, P = 0.390; heterozygote genetic model: OR = 0.99, 95 % CI 0.97–1.00, P = 0.138; and allele contrast genetic model: OR = 0.99, 95 % CI 0.98–1.01) for MTHFR gene 1298 A>C polymorphism and breast cancer susceptibility. In the subgroup analysis stratified by source of control, decreased risk of breast cancer was found in studies with hospital-based controls in dominant model (OR = 0.98, 95 % CI 0.96–1.00, P = 0.037).ConclusionsOur meta-analysis suggested that there is no significant association between MTHFR gene 1298A>C polymorphism and breast cancer susceptibility for overall population.

Highlights

  • Studies investigating the association between the methylenetetrahydrofolate reductase (MTHFR) gene 1298A>C polymorphism and the risk of breast cancer have reported inconsistent results

  • Data sources Two databases were electronically searched, including PubMed and EMBASE, to retrieve studies analyzing the association between breast cancer susceptibility and MTHFR gene 1298A>C polymorphism until January 1, 2016

  • 11 was irrelevant to 1298A>C polymorphism, four focused on breast cancer mortality, one conducted among the same patients and controls with another study, but provided less completed data, and for one study, the controls were chosen from BRCA1 carriers

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Summary

Introduction

Studies investigating the association between the methylenetetrahydrofolate reductase (MTHFR) gene 1298A>C polymorphism and the risk of breast cancer have reported inconsistent results. We performed this updated meta-analysis and tried to give a more precise estimation of association between MTHFR gene 1298A>C polymorphism and breast cancer susceptibility. Breast cancer is the most frequently diagnosed cancer among women, which contributed to 25 % of all cancer cases in women worldwide, and it is the leading cause of female cancer-related death [1]. Many susceptible genes involved in initiation and evolution of breast cancer have been researched, and one of them, the methylenetetrahydrofolate reductase (MTHFR) gene has been widely studied

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