非家族性青年三阴性乳腺癌与 BRCA1基因突变的关系

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①50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% vs 23．8%),但差异无统计学意义(χ2=1．599)。②50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”；③50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。

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

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.