亚甲基四氢叶酸还原酶基因多态性与乳腺癌相关性的研究进展

乳腺癌是一种复杂的全身性的疾病，其发病机制尚未完全清楚，但受基因及环境相互作用的影响。亚甲基四氢叶酸还原酶（MTHFR）基因位于1号染色体短臂的末端（1p36.6），是叶酸代谢途径的关键酶，参与DNA合成、修复及甲基化过程。MTHFR基因多态性的分布在不同的种族及区域存在差异，其基因的单核苷酸突变会使该酶的生物活性及热稳定性下降，参与肿瘤的发生及发展过程，多项研究显示 MTHFR基因多态性与乳腺癌发生、发展及预后密切相关。

Research progress of relationship between methylenetetrahydrofolate reductase polymorphism and breast cancer

Breast cancer is a complicated systemic disease.Though the etiology of breast cancer is still not fully understood，evidence suggests that susceptibility genes combing with environmental factors may be important to the development of cancer.The methylenetetrahydrofolate reductase(MTHFR）gene is located on the chromosome 1p36.3 and MTHFR is a key enzyme at the pathway of folate metabolism and regulates the intracellular folate pool for synthesis，repair and methylation of DNA.The MTHFR polymorphisms may affect MTHFR enzyme causing a reduction in its activity and heat stability and also influence the germination and development of cancer.It has already been confirmed that the polymorphism of MTHFR may closely related to the germination，development and prognosis of breast cancer.