乳腺癌患者BRCA基因突变检测及P53蛋白表达分析

发布时间：2018-06-22 03:31

本文选题：乳腺癌 + BRCA基因　；参考：《中国病原生物学杂志》2017年01期

【摘要】：目的研究乳腺癌患者BRCA基因突变及P53蛋白表达情况,为疾病防治提供指导。方法制作40例住院乳腺癌患者组织蜡片标本,采用PCR扩增及基因测序检测BRCA基因突变情况,采用免疫组化试剂盒检测乳腺癌组织P53蛋白表达情况。结果 PCR扩增BRCA1基因exon10片段大小为244bp,BRCA2基因exon10片段为247bp,BRCA2基因exon11片段为256bp,BRCA1基因exon11片段为266bp。测序分析显示BRCA1基因exon 10发生碱基突变,突变类型为26位T→C,相应氨基酸突变类型为Cys→Ser;BRCA1基因的exon 11发生的碱基突变类型较多,包括1 954位T→C、3 694位insAA、3 948位G→C、3 182位A→C以及3 538位insT,相应氨基酸突变类型为Lyn→Glu、stop1209、Ala1277Pro、Ser1021Arg以及stop1147;BRCA2基因exon 10发生的碱基突变类型为943T→A,相应氨基酸突变类型为Cys→Ser;BRCA2基因exon 11发生的碱基突变类型为2971A→G,相应氨基酸突变类型为Asn→Asp。免疫组化检测乳腺癌病变组织表达P53蛋白。结论乳腺癌的发生与BRCA基因突变有关,组织中P53蛋白的表达与BRCA基因突变乳腺癌患者病程有关,临床检测BRCA基因和P53蛋白表达情况可为疾病防治提供指导。
[Abstract]:Objective to study BRCA gene mutation and p53 protein expression in breast cancer patients. Methods paraffin slices were made from 40 breast cancer patients in our hospital. BRCA gene mutation was detected by PCR amplification and gene sequencing, and p53 protein expression in breast cancer tissue was detected by immunohistochemistry kit. Results the size of the BRCA1 gene exon10 fragment was 244bpnBRCA2 gene exon10 fragment was 247bpnBRCA2 gene exon11 fragment was 256bpnBRCA1 gene exon11 fragment was 266bp. Sequencing analysis showed that exon 10 of BRCA1 gene had a base mutation, and the mutation type was 26 T member C, and the corresponding amino acid mutation type was exon 11 of Cys serine BRCA1 gene. The corresponding amino acid mutation type is Lyn Glustop1209Ala1277ProProG Ser1021Arg and stop1147BRCA2 gene exon 1021Arg. The corresponding amino acid mutation type is 943T Tu A, and the corresponding amino acid mutation type is 943T Tu A, the corresponding amino acid mutation type is 943T, and the corresponding amino acid mutation type is 943T, and the corresponding amino acid mutation type is Lyn Glustop1209Ala1277ProH1021Arg and stop1147BRCA2 gene exon 1021Arg. The corresponding amino acid mutation type is 943T. The base mutation type of Cys sero BRCA2 gene exon 11 is 2971A G, and the corresponding amino acid mutation type is Asn. The expression of p53 protein was detected by immunohistochemistry. Conclusion the occurrence of breast cancer is related to BRCA gene mutation, and the expression of p53 protein is related to the course of breast cancer patients with BRCA gene mutation. The clinical detection of BRCA gene and p53 protein expression can provide guidance for the prevention and treatment of the disease.
【作者单位】：芜湖市第二人民医院;皖南医学院生物化学教研室;皖南医学院弋矶山医院妇产科;
【分类号】：R737.9

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