非家族性青年三阴性乳腺癌与BRCA1基因突变的关系  

The relationship between non-familial young triple negative breast cancer and BRCA1 mutations

作　　者：刘晓丹[1] 许文婷[1] 杨亮[1] 吴涛[1] 王斌[1] 吐鲁洪.沙吾列 赵倩[1] 迪力夏提.金斯汗 朱丽萍[1] 

机构地区：[1]新疆医科大学附属肿瘤医院乳腺外科,乌鲁木齐830011

出　　处：《安徽医科大学学报》2015年第8期1168-1172,共5页Acta Universitatis Medicinalis Anhui

基　　金：新疆维吾尔自治区自然科学基金(编号:2012211A031)

摘　　要：目的探讨非家族性青年三阴性乳腺癌(TNBC)与BRCA1基因突变的关系以及突变者与未突变者的临床病理组织特征的差别。方法应用PCR扩增联合DNA直接测序法检测新疆地区50例非家族性青年TNBC患者BRCA1基因突变情况,同时对比分析突变者与未突变者的临床病理组织特征。结果 1 50例非家族性青年TNBC患者BRCA1突变率为26%(13/50),其中汉族高于少数民族(27.6%vs23.8%),但差异无统计学意义(χ2=1.599)。2 50例非家族性青年TNBC患者中发现13例BRCA1突变的12个位点,其中4个为新发现的位点;2个BRCA1基因突变"热点";3 50例非家族性青年TNBC BRCA1突变者与未突变者相比,腋窝淋巴结转移率高(69.2%vs 35.1%),TNM分期晚(77%vs 37.8%),差异均有统计学意义(P<0.05)。结论新疆地区非家族性青年TNBC患者BRCA1基因突变率高;212+1G>T和2077G>A可能为新疆地区非家族性青年TNBC患者遗传易感位点,尚需扩大样本进一步研究;突变者与未突变者相比,存在临床病理组织差异。Objective To explore the relationship between non-familial young triple negative breast cancer （TN-BC） and BRCA1 gene mutation and discuss the difference of clinical and pathological features between patients with BRCA 1 gene mutation and without it . Methods BRCA 1 gene mutations of 5 0 cases non-familial young TNBC patients were detected by PCR-DNA sequencing in Xinjiang region. Clinical and pathological features were com-pared and analyzed between patients with BRCA1 gene mutation and without it. Results ① The prevalence of BRCA1 mutations in 50 non-familial young TNBC cases was 26% （13 / 50）,which Han is higher than ethnic minori-ties （27. 6% vs 23. 8% ）, but the difference was not statistically significant （χ2 = 1. 599）. ② 13 cases of BRCA1 mutations with 12 loci in 50 cases of non-familial young TNBC patients were found, 4 of which were new loci;2 BRCA1 gene mutation ＂hot spots＂ were found. ③ Compared with no BRCA1 mutation patients,BRCA1 mutation patients in 50 cases of non-familial young TNBC had higher rate of axillary lymph node metastasis （69. 2% vs 35. 1% ）,and later rate of TNM stage （77% vs 37. 8% ）,the differences were statistically significant（P 〈 0. 05）. Conclusion The prevalence of BRCA1 mutations in patients with non-familial young TNBC is higher in multi-eth-nic region of Xinjiang. 212 ＋ 1G 〉 T and 2077G 〉 A may be genetic susceptible spot in non-familial young TNBC in Xinjiang region,and require more samples to confirm the results. Differences exist in clinical and pathological fea-tures between patients with BRCA1 gene mutation and without of it.

关 键 词：BRCA1基因 突变 非家族性 青年女性 三阴性乳 腺癌 临床病理特征 

分 类 号：R737.9[医药卫生—肿瘤]