宁波地区乳腺癌BRCA1基因突变检测的研究  

Detection of breast cancer BRCA1 gene mutation in Ningbo

作　　者：严梅娣 王琳[2] 李国庆 戴绩 范瑞[2] 岑雪英 

机构地区：[1]浙江省宁波市第七医院普外科,浙江宁波315202 [2]宁波大学,浙江宁波315202

出　　处：《中国医药科学》2016年第24期198-200,219,共4页China Medicine And Pharmacy

基　　金：浙江省宁波市社会发展项目(2014C50046)

摘　　要：目的通过对宁波地区60例乳腺癌BRCA1基因突变检测,了解宁波地区乳腺癌患者BRCA1基因突变位点及携带分布情况。方法选择2014-2015年宁波市第七医院甲乳外科收治的无血缘关系原发性乳腺癌患者共60例。全部为女性,年龄22-69岁,平均43岁,静脉采血提取DNA,对BRCA1基因进行全长测序。BRCA1基因的突变通过DNA扩增并送交测序,结果经测序证实。统计分析BRCA1基因突变情况。结果 60例遗传性乳腺癌,共发现14例（23.33%）BRCA1基因突变,其中185 del AG（2例）、4956 A〉G（2例）,1100del A（1T例）,IVS17-1G〉T（1例）,3449 ins A（1例）,其余突变在BIC数据库中未见报道。在三阴性乳腺癌中BRCA1突变组织分期较晚,发病年龄偏早。结论宁波地区乳腺癌BRCA1基因突变率较高,多为移码突变;三阴性乳腺癌BRCA1突变的组织分期较高;在宁波地区BRCA1基因的185 del AG、4956 A〉G为BRCA1基因突变热点。Objective Through detection of BRCA1 gene mutation, to understand the BRCA1 gene mutation site and its carrying distribution of breast cancer patients in Ningbo. Methods 60 patients with primary breast cancer were selected,who were unrelated and treated in the Department of breast surgery of Seventh hospital of Ningbo City from 2014 to 2015. All patients were women,aged 22-69 years, average 43 years old. DNA was extracted and the BRCA1 gene was sequenced. BRCA1 gene mutation was sent for sequencing by DNA amplification, and the results confirmed by sequencing. BRCA1 gene mutation was statistically analyzed. Results In 60 cases of hereditary breast cancer, there were 14 cases（23.33%） mutations in the BRCA1 gene, including 2 cases of 185 del AG, 2 cases of 4956 A〉G, 1 cases of 1100 del AT,1 cases of IVS17-1G〉T, and 1 cases of 3449 ins A（1 cases）. The remaining mutations have not been reported in the BIC database. In three negative breast cancer, the stage of BRCA1 mutation was late, and the age of onset was earlier. Conclusion The mutation rate of BRCA1 gene of breast cancer in Ningbo is high, and most of them are frameshift mutation. Three negative breast cancer BRCA1 mutation had higher tissue staging. In Ningbo, 185 del AG and A〉G of the BRCA1 gene are the Mutation hotspot.

关 键 词：BRCA1 突变 乳腺癌 

分 类 号：R737.9[医药卫生—肿瘤]