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目的研究广东省家族性和早发性乳腺癌患者的BRCA1基因突变情况及其与ER、PR、HER2和ALN等表达的关系。方法抽取广东省58例家族性和早发性乳腺癌患者的外周静脉血,提取基因组DNA,应用PCR技术对BRCA1基因的全部编码序列进行扩增,突变分析由变性高效液相色谱分析(DHPLC)进行预筛后,进行DNA测序方法证实。免疫组化法检测患者中ER、PR、HER2和ALN的表达情况,并分析其表达与BRCA1基因突变的关系。结果58例乳腺癌患者中,2例年龄<35岁的患者发生BRCA1致病突变,而且其中1个为新发现的拼接点突变(331G→A)。BRCA1基因突变位点与ER、PR、HER2和ALN的表达无关。结论广东省早发性乳腺癌患者和家族性乳腺癌患者的BRCA1基因突变的发生率明显低于西方国家;331G→A致病突变位点可能是广东省早发性乳腺癌的特有突变位点;基因突变位点可能与ER、PR、HER2和ALN等组织学表达无关。
Objective To investigate the BRCA1 gene mutation and its relationship with the expression of ER, PR, HER2 and ALN in familial and early-onset breast cancer patients in Guangdong Province. Methods Peripheral venous blood was collected from 58 patients with familial and early-onset breast cancer in Guangdong Province. Genomic DNA was extracted. The full-length coding sequence of BRCA1 gene was amplified by PCR. The mutation was analyzed by denaturing high performance liquid chromatography (DHPLC) After pre-screening, DNA sequencing method confirmed. The expression of ER, PR, HER2 and ALN in patients were detected by immunohistochemistry and the relationship between the expression of BRCA1 and the expression of BRCA1 gene was analyzed. Results Of the 58 patients with breast cancer, 2 patients with BRCA1 pathogenic mutations were found in patients <35 years of age, and 1 of them was a newly discovered splicing point mutation (331G → A). BRCA1 gene mutation sites and ER, PR, HER2 and ALN expression has nothing to do. Conclusion The prevalence of BRCA1 mutation in patients with early-onset breast cancer and familial breast cancer in Guangdong province is significantly lower than that in Western countries. The mutation site 331G → A may be a specific mutation in early-stage breast cancer in Guangdong Province The gene mutation sites may not be related to the histological expression of ER, PR, HER2 and ALN.