甘肃地区乳腺癌患者的CYP2D6基因多态性及代谢表型特征分析

目的:分析乳腺癌患者的CYP2D6基因多态性和代谢表型，为乳腺癌患者进行他莫西芬（TAM）个体化临床治疗提供参考依据。方法:选取2018年1月至2019年1月于我院乳腺科确诊的170例乳腺癌患者外周血，通过Sanger测序技术对CYP2D6基因的9个外显子进行全面具体分析。结果:本研究主要发现有5个CYP2D6等位基因变异位点:CYP2D6*10、CYP2D6*4、CYP2D6*7、CYP2D6*41和CYP2D6*5，其对应的发生频率分别为66.5%、5.9%、2.4%、0.6%和0.6%；其中，CYP2D6*10/*10基因型在乳腺癌患者中占据主导地位，发生频率为60.6%。结论:中国甘肃地区乳腺癌患者，多以CYP2D6*10等位基因、CYP2D6*10/*10基因型、TAM中间代谢型为主，这可为乳腺癌患者选择相应的个体化药物治疗方案以及本地区乳腺癌患者今后大规模的药物遗传基因组学研究提供参考数据。

CYP2D6 genetic polymorphisms and phenotypes of breast cancer patients in Gansu province

Objective:To comprehensively identify CYP2D6 gene polymorphism and phenotypes among breast cancer patients,in order to provide the reference data for breast cancer patients with selecting an optimal drug therapy.Methods:We collected the peripheral blood samples of 170 breast cancer patients who diagnosed in our hospital from January 2018 to January 2019.The genetic polymorphisms of all the 9 exons of CYP2D6 gene were identified using DNA sequencing.Results:Five CYP2D6 alleles consisting of CYP2D6*10,CYP2D6*4,CYP2D6*7,CYP2D6*41,and CYP2D6*5 were identified in this study.The frequency of them were 66.5%,5.9%,2.4%,0.6%,0.6% respectively.Among these alleles,CYP2D6*10 was the most common allele in breast cancer patients,and 60.6% of CYP2D6*10/*10 was more frequently observed in breast cancer patients.Conclusion:CYP2D6*10 allele and CYP2D6*10/*10 genotype,intermediate metabolism type were more frequently observed in breast cancer patients of Gansu province.These data may aid clinicians in selecting an optimal drug therapy for breast cancer patients,hence improve the clinical outcome of the patients,and this study can also provide the reference data for the Gansu province in the future large-scale genome genetic medicine study of breast cancer patients.