| 16例家族性乳腺癌BRCA2基因突变的分析 |
| |
| 引用本文： | 崔振,杨云振,余辉,张大庆,余建军.16例家族性乳腺癌BRCA2基因突变的分析[J].宁夏医科大学学报,2011(6):515-518,F0002. |
| |
| 作者姓名： | 崔振 杨云振 余辉 张大庆 余建军 |
| |
| 作者单位： | 宁夏医科大学;宁夏回族自治区人民医院;宁夏医科大学总医院; |
| |
| 基金项目： | 2008年宁夏回族自治区国际科技合作计划项目(第二批),序号6 |
| |
| 摘 要： | 目的分析16例家族性乳腺癌患者乳腺癌易感基因-2（BRCA2）突变的特点。方法以16个乳腺癌家系中16例乳腺癌患者为研究对象,30例散发性乳腺癌患者为对照组,应用聚合酶链式反应（PCR）扩增目的片段,直接测序的方法,检测BRCA2部分序列突变。结果 16例家族性乳腺癌患者中,发现3例致病性突变,突变率为18.75%。其中2例为新发现的突变,单个碱基替换引起的编码氨基酸改变M2610I和2405 delT（stp729）导致蛋白截短;另外1例是已报道的无义突变E2924X。散发性乳腺癌患者中未发现致病性突变,二者差异有统计学意义（P=0.037）。本研究还发现已知的内含子变异IVS21-66T/C在16例家族性乳腺癌患者中的检出率达56.25%,该位点变异在散发性乳腺癌中检出率为20%,差异有统计学意义（χ2=4.699,P〈0.05）。结论 BRCA2突变与家族性乳腺癌发生密切相关,而与散发性乳腺癌的发生关系不大,在具有乳腺癌家族史的高危人群中该检测突变有一定的诊断价值。
|
| 关 键 词： | 乳腺癌 BRCA2 基因突变 基因多态性 |
Analysis of the Mutations of BRCA2 Gene among Patients with Familial Breast Cancer |
| |
| CUI Zhen,YANG Yun-zhen,YU Hui,ZHANG Da-qing,YU Jian-jun.Analysis of the Mutations of BRCA2 Gene among Patients with Familial Breast Cancer[J].Journal of Ningxia Medical College,2011(6):515-518,F0002. |
| |
| Authors: | CUI Zhen YANG Yun-zhen YU Hui ZHANG Da-qing YU Jian-jun |
| |
| Institution: | CUI Zhen1,YANG Yun-zhen2,YU Hui2,ZHANG Da-qing1,YU Jian-jun3(1.Ningxia Medical University,Yinchuan 750004,2.Ningxia People's Hospital,Yinchuan 750021,3.The General Hospital of Ningxia Med.Univ.,Yinchuan 750004) |
| |
| Abstract: | Objective To analyze the prevalence of BRCA2 gene mutations in patients with familial breast cancer.Methods Peripheral blood Samples were collected from 16 patients with familial breast cancer from 16 breast cancer families and 30 sporadic breast cancer patients(controls).BRCA2 gene mutations were detected by polymerase chain reaction(PCR) and direct sequencing.Results Three pathogenic mutations were found in these 16 familial breast cancer patients(18.75%) and two of them were novel mutations(missense muta... |
| |
| Keywords: | breast cancer BRAC2 mutation polymorphism |
| 本文献已被 CNKI 维普 等数据库收录！ |
|
