目的 探讨BRCA2基因11号外显子多态性与乳腺癌预后的相关性.方法 采用限制性片段长度多态性聚合酶链反应技术(PCR-restriction fragment length polymorphism,PCR-RFLP)、高分辨率熔解曲线技术和直接测序法对159例散发性乳腺癌患者外周血中基因组DNA进行等位基因分型,并运用Kaplan-Meier法进行生存分析.结果 N991D多态位点与乳腺癌患者的无病生存期相关联,携带ND基因型的患者无病生存期较长(P =0.033),与临床病理特征无明显相关性.BRCA2基因M784V多态性在中国人群中罕见.结论 中国人群的遗传背景与外国人群存在差异性.BRCA2基因N991D多态性与乳腺癌预后存在相关性.%Purpose To investigate the association of BRCA2 non-synonymous polymorphisms in exon 11 with prognosis in breast cancer patients. Methods A total of 159 sporadic breast cancer patients were recruited in this study. PCR-restriction fragment length polymorphism ( PCR-RFLP) and high-resolution melt ( HRM) were performed for genotyping, while direct sequencing was used to confirm the genotyping results, followed by Kaplan-Meier survival analysis. Results The results showed the N991D polymorphism was associated with clinical outcome. The ND genotype was significantly associated with longer disease free survival (P =0. 033). However, this polymorphism was not associated with clinico-pathological characteristics. The M874V polymorphism was not common in our population. Conclusions The genetic background of Chinese population is different from that of foreign populations. This hitherto first study indicate that the BRCA2 coding polymorphism N991D may affect prognosis of breast cancer in Chinese women. Further analysis using a larger follow up data may be needed to confirm our results.
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