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目的通过对新疆82例遗传性乳腺癌BRCA基因突变检测,了解新疆遗传性乳腺癌BRCA1/2基因突变位点及携带情况。方法以来自新疆地区的82例符合遗传性乳腺癌标准的患者为研究对象,通过外周静脉血提取基因组DNA,对BRCA1/2基因的全部编码序列进行扩增。BRCA1/2基因突变分析由变性高效液相色谱分析(DHPLC)进行预筛,结果进行DNA测序证实。统计分析BRCA1/2基因突变情况。结果 82例遗传性乳腺癌,共发现8例(9.76%)BRCA基因突变,其中BRCA1突变4例,BRCA2突变4例;4例BRCA突变(2073delA移码突变、W372X无义突变、6873delCTCC移码突变、9481delA移码突变)在BIC数据库中未见报道。在三阴性乳腺癌中BRCA1突变率高(5/30,16.7%)。结论遗传性乳腺癌BRCA基因突变率高于散发性乳腺癌;三阴性乳腺癌BRCA1突变的比例高;在新疆多民族地区未发现BRCA基因突变热点。
OBJECTIVE: To detect the BRCA1 / 2 gene mutation site and its carrying status in Xinjiang hereditary breast cancer by detecting BRCA gene mutations in 82 cases of hereditary breast cancer in Xinjiang. Methods A total of 82 patients with hereditary breast cancer from Xinjiang were enrolled in this study. Genomic DNA was extracted from peripheral venous blood to amplify the entire coding sequence of BRCA1 / 2 gene. The BRCA1 / 2 gene mutation was pre-screened by denaturing high performance liquid chromatography (DHPLC) and confirmed by DNA sequencing. Statistical analysis of BRCA1 / 2 gene mutations. RESULTS: Eighty cases (9.76%) of BRCA gene mutations were found in 82 cases of hereditary breast cancer, including 4 cases of BRCA1 mutation and 4 cases of BRCA2 mutation. 4 cases of BRCA mutation (2073delA frameshift mutation, W372X nonsense mutation, 6873delCTCC frameshift mutation) , 9481delA frameshift mutation) have not been reported in the BIC database. The BRCA1 mutation rate is high in triple-negative breast cancer (5/30, 16.7%). Conclusion The mutation rate of BRCA gene in hereditary breast cancer is higher than that of sporadic breast cancer. The proportion of BRCA1 mutation in triple negative breast cancer is high. No hot spot of BRCA gene mutation is found in multi-ethnic areas of Xinjiang.