二氢嘧啶脱氢酶基因的T85C和A1627G联合突变对乳腺癌患者预后的影响

目的:探讨二氢嘧啶脱氢酶基因(DPYD)的T85C和A1627G突变对浸润性乳腺癌患者生存的影响。方法:采用SPSS19.0软件进行统计学分析，使用临床资料完整的173例浸润性乳腺癌患者的石蜡包埋组织标本，检测并分析了DPYD基因编码序列的第85位点和第1627位点的核苷酸突变情况，并分析其与患者预后的关系。结果: T85C和A1627G位点联合突变与患者的淋巴结转移状态呈正相关。T85C和A1627G位点单突变对乳腺癌患者预后无影响，而与对照组相比，存在T85C和A1627G位点联合突变的乳腺癌患者预后较差，差异具有统计学意义。结论:中国乳腺癌患者中，DPYD基因T85C和A1627G联合突变与患者的淋巴结转移状态相关，且对患者预后具有重要影响，T85C和A1627G联合突变的患者预后较差。

Effect of combined mutations of T85C and A1627G in dihydropyrimidine dehydrogenase gene on prognosis of patients with breast cancer

Objective: To explore the prognostic effect of two mutations , T85C and A1627G of dihydropyrimidine dehydrogenase (DPYD)gene in invasive breast cancer. Methods: Paraffin-embedded specimens of 173 invasive breast cancer patients were sequenced and the nucleotide mutations at 85 and 1627 locus of DPYD gene coding sequence were detected. SPSS 19.0 software package was used to analysis the relationship between these two mutations and patients’ prognosis. Results: T85C combined with A1627G mutations showed a positive association with lymph node metastasis in breast cancer patients. T85C or A1627G single mutation was not correlated with prognosis of breast cancer patients. Patients with both T85C and A1627G mutations showed a worse prognosis compared with other patients. Conclusion: Combination of T85C with A1627G mutations in DPYD may have a positive association with lymph metastasis in Chinese invasive breast cancer patients. T85C combined with A1627G mutations indicates a worse prognosis.