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目的研究新疆多民族地区三阴性乳腺癌(TNBC)BRCA1基因的突变情况及突变者与未突变者临床、病理组织特征的差异。方法以新疆多民族地区130例TNBC患者为研究对象,从静脉血提取基因组DNA,采用PCR联合直接测序法检测BRCA1基因突变情况。结果 130例TNBC患者BRCA1突变率为17.7%(23/130),其中汉族与少数民族TNBC患者BRCA1突变率分别为20.5%(17/83)、12.8%(6/47),差异无统计学意义(χ2=1.856,P=0.869)。130例TNBC患者中发现23例BRCA1突变的19个位点,其中8个为新发现的位点;4个BRCA1基因突变“热点”;此外还发现了9例(6.9%,9/130)致病性突变,5例无义突变,4例移码突变。早发性TNBC组BRCA1突变率28.3%(13/46)高于晚发性TNBC组11.9%(10/84),差异有统计学意义(χ2=5.460,P<0.05)。BRCA1基因突变组与BRCA1基因未突变组相比,发病年龄早,腋窝淋巴结转移率高,TNM分期晚,差异均有统计学意义(P<0.05)。结论新疆多民族地区TNBC患者BRCA1基因突变率高;突变者与未突变者相比,存在临床病理组织差异。
Objective To investigate the mutation of BRCA1 gene in triple negative breast cancer (TNBC) in multi-ethnic areas in Xinjiang and the difference of clinical and pathological features between those with and without mutations. Methods A total of 130 TNBC patients in the multi-ethnic region of Xinjiang were enrolled. Genomic DNA was extracted from venous blood and the mutation of BRCA1 gene was detected by PCR combined with direct sequencing. Results The mutation rate of BRCA1 in 130 TNBC patients was 17.7% (23/130). The mutation rates of BRCA1 in Han and ethnic minority TNBC patients were 20.5% (17/83) and 12.8% (6/47) respectively, with no significant difference (χ2 = 1.856, P = 0.869). Twenty-nine of the 19 BRCA1 mutations were found in 130 TNBC patients, of which 8 were newly found; 4 were BRCA1 mutations “hot spots”; 9 were found (6.9%, 9/130 ) Pathogenic mutations, 5 nonsense mutations and 4 frameshift mutations. The rate of BRCA1 mutation was 28.3% (13/46) in early-onset TNBC group and 11.9% (10/84) in late-stage TNBC group, the difference was statistically significant (χ2 = 5.460, P <0.05). Compared with the BRCA1 gene non-mutation group, the BRCA1 gene mutation group had earlier onset age, higher axillary lymph node metastasis rate and TNM stage, the differences were statistically significant (P <0.05). Conclusion The mutation rate of BRCA1 gene in TNBC patients in multi-ethnic areas of Xinjiang is high. Compared with non-mutation patients, there is a difference in clinicopathological features.