新疆地区维、汉民族妇女散发性乳腺癌BARD1基因突变检测分析  

Mutational analysis of BARD1 in sporadic breast carcinoma in Xinjiang Uygur and Han women

作　　者：孙刚[1] 王晓丽[1] 马斌林[1] 耿中利[1] 阿力比亚提.艾尼 王进[1] 单美慧[1] 

机构地区：[1]新疆医科大学附属肿瘤医院乳腺头颈外科,新疆乌鲁木齐830011

出　　处：《中国癌症杂志》2011年第7期568-574,共7页China Oncology

基　　金：新疆维吾尔自治区科技厅少数民族科技人才培养计划项目(No:200823114);新疆维吾尔自治区卫生厅青年科技人才专项(No:2009Y19)

摘　　要：背景与目的:乳腺癌是基因环境交互作用的复杂疾病,高共显的易感基因突变与家族性乳腺癌密切相关。本研究旨在探讨新疆地区维、汉民族女性散发性乳腺癌患者BARD1基因突变情况及突变位置,以期为后续研究奠定基础。方法:随机选取维、汉民族妇女散发性乳腺癌各30例,收集临床病理资料及癌组织与血液标本。应用启动子和外显子测序的方法检测BARD1基因突变,并在血液样本中测序来验证上述结果。结果:⑴维族和汉族散发性乳腺癌患者在生育史上差异有统计学意义,且维族有很大比例为非雌激素依赖性乳腺癌。⑵维族散发性乳腺癌患者BARD1基因突变率为33.3%,而汉族为13.8%,但差异无统计学意义(χ2=3.11,P=0.07)。新发现的14个低频SNP全部位于非编码区。⑶血液验证除一个位点rs28997575外,其余43个全部一致,提示突变为生殖细胞突变。结论:维、汉民族的乳腺癌类型有差异,治疗也应区别对待。BARD1基因突变在维族乳腺癌患者中作用可能大于汉族患者,机制可能是增加了乳腺癌易感性。Background and purpose：Breast cancer is a complex disease influenced by both genetic and environmental factors.Since BARD1,a breast cancer susceptibility gene,forms heterodimers with BRCA1,it is speculated that BARD1 mutations might affect the function of BRCA1 thus contributing to breast carcinogenesis.We conducted this study in order to analyze the mutation of BARD1 in Uygur and Han women in Xinjiang.Methods：We randomly selected 30 cases of sporadic breast cancer in Uygur and Han respectively,collected basic data,tumor tissue and blood specimens.Then the promoter and exon sequencing method was used,the BARD1 gene mutations were detected,and blood samples were sequenced.Results：⑴The sporadic breast cancer patients of Uygur and Han had significant differences in fertility and there was a large percentage of non-estrogen dependent breast cancer in Uygur.⑵Mutation rate of BRCA1 were 33.3% and 13.8% in Uygur and Han respectively.Though it was lower in Han,the difference was not significant（χ2=3.11,P=0.07） .All of the 14 newly discovered low-frequency SNP were in the non-coding regions.⑶The results of DNA sequencing and blood validation were consistent,except one locus rs28997575.Conclusion：Due to the fact that Uygur and Han expressed different in types of breast cancer,treatment should also be correspondingly different.BARD1 mutations in breast cancer patients were more important in Uygur and may increase their genetic susceptibility to breast cancer.

关 键 词：散发性乳腺癌 BARD1基因 DNA测序 单核苷酸多态性 易感性 

分 类 号：R737.9[医药卫生—肿瘤]