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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。
Objective To study the mutation of BRCA gene and the expression of P53 protein in breast cancer patients and provide guidance for disease prevention and treatment. Methods 40 cases of inpatients breast cancer tissue wax samples were made. The mutation of BRCA gene was detected by PCR amplification and gene sequencing. The expression of P53 protein in breast cancer tissues was detected by immunohistochemical kit. Results The size of exon10 fragment of BRCA1 gene was 244bp by PCR. The exon10 fragment of BRCA2 gene was 247bp, the exon11 fragment of BRCA2 gene was 256bp, and the exon11 fragment of BRCA1 gene was 266bp. Sequencing analysis showed that there was a base mutation in exon 10 of BRCA1 gene. The type of mutation was 26 T → C and the corresponding amino acid mutation type was Cys → Ser. There were many types of base mutation in exon 11 of BRCA1 gene, including 1 954 T → C, 3 694 insAA, 3 948 G → C, 3 182 A → C and 3 538 insT, and the corresponding amino acid mutations are Lyn → Glu, stop1209, Ala1277Pro, Ser1021Arg and stop1147; and the bases of the BRCA2 gene exon 10 The base mutation type is 943T → A, the corresponding amino acid mutation type is Cys → Ser. The mutation type of base mutation in exon 11 of BRCA2 gene is 2971A → G, and the corresponding amino acid mutation type is Asn → Asp. Immunohistochemical detection of P53 protein expression in breast lesions. Conclusion The occurrence of breast cancer is related to the mutation of BRCA gene. The expression of P53 protein is related to the course of BRCA mutation in breast cancer patients. The clinical detection of BRCA gene and P53 protein expression may provide guidance for disease prevention and treatment.