摘要
目的研究乳腺癌易感基因1/2(BRCA1/2)在三阴性乳腺癌(TNBC)患者中的突变状态,分析其与TNBC临床病理特征之间的关系。方法回顾性分析2016年7月至2017年7月就诊于郑州大学第一附属医院的46例TNBC患者的临床资料,对患者的BRCA1与BRCA2基因的全部外显子、部分相关内含子区域以及外显子上下游±50 bp剪切突变区域进行检测。将46例患者按是否含致病突变分为两组,对比分析其与临床病理特征的关系。结果在46例TNBC患者中,共检测到8例BRCA1/2致病突变,其中3例移码突变c.5085_5086ins T、c.3656del A和c.3719_3720del TG为新发现的致病突变。有致病突变组有乳腺癌家族史的比例高于无致病突变组,差异有统计学意义(P<0.05)。结论 TNBC中BRCA1突变率较高,伴有乳腺癌家族史的患者BRCA基因的突变率较高,本次新发现的突变位点(c.5085_5086ins T、c.3656del A和c.3719_3720del TG)丰富了BRCA基因突变研究的信息。
Objective To study the mutation status of breast cancer susceptibility gene 1/2（ BRCA1/2） in patients with triple negative breast cancer（ TNBC）,and to analyze the relationship between BRCA1/2 and clinicopathological characteristics of TNBC. Methods The clinical data of 46 patients with TNBC who had been admitted to the First Affiliated Hospital of Zhengzhou University from July of 2016 to July of 2017 were retrospectively analyzed. All exons of the gene,part of the relevant intron region of BRCA1 and BRCA2 and the upstream and downstream ± 50 bp shear mutations of exons were detected. Forty-six patients were divided into two groups according to pathogenic mutations. The relationship of clinicopathological features and mutation state was analyzed. Results In the 46 patients with TNBC,8 cases had BRCA1/2 pathogenic mutations,of which 3 cases of the mutations c. 50855086 ins T,c. 3656 del A and c. 37193720 del TG were newly discovered disease-causing mutations. The proportion of family history in pathogenic mutation group was higher than that in non-pathogenic mutation group,and the difference was statistically significant（ P 0. 05）. Conclusion The mutation rate of BRCA1 is higher in patients with TNBC. The mutation rate of BRCA gene in patients with family history of breast cancer is higher. The newly discovered mutation sites（ c. 5085 5086 ins T,c. 3656 del A and c. 3719 3720 del TG） are abundant for the BRCA gene mutation research information.
作者
高东程
李靖若
杜闯
刘浩坤
Gao Dongcheng;Li Jingruo;Du Chuang;Liu Haokun(Breast Surgery,the First Affiliated Hospital of Zhengzhou University;Hepatobiliary Surgery,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450000,China,2.Hepatobiliary Surgery)
出处
《河南医学研究》
CAS
2018年第6期971-974,共4页
Henan Medical Research
关键词
乳腺肿瘤
易感基因
突变
hreast neoplasms
susceptibility gene
mutation
