青年乳腺癌易感基因突变与淋巴结转移相关性研究  

The association between the mutation of BRCA1 gene and lymph node metastasis in young breast cancer patients

作　　者：孙靖中[1] 肖虎 戴勇[1] 李鹏宇[1] 

机构地区：[1]山东医科大学附属医院普外科,山东济南250012

出　　处：《癌症》2000年第5期446-449,共4页Chinese Journal of Cancer

摘　　要：目的 :了解青年乳腺癌BRCA1基因突变情况 ,探讨BRCA1基因突变与腋窝淋巴结转移等临床病理参数的关系。方法 :应用聚合酶链式反应 (PCR) -变性聚丙烯酰胺凝胶电泳 (PAUGE) -DNA银染方法 ,研究 30例 <35岁乳腺癌患者的BRCA1基因外显子 2、2 0的突变情况。结果 :检出 8例突变 ,突变率为 2 6 7% ,5例在外显子 2 ,3例在外显子 2 0。腋窝淋巴结转移的乳腺癌BRCA1突变率为 38 9% ,而无转移者仅为 8 3%。腋窝淋巴结转移率 >5 0 %的患者 ,与腋窝淋巴结转移率 <5 0 %的患者相比 ,前者BRCA1基因突变率显著高于后者 (71 4%vs18 2 % )。雌激素受体阳性的乳腺癌BRCA1突变率显著低于雌激素受体阴性乳腺癌 (5 36 %vs 6 3 6 % )。结论 :青年乳腺癌与BRCA1基因突变存在相关性 ;BRCA1基因突变与腋窝淋巴结转移呈正相关 ,与雌激素受体阳性呈负相关 ;对BRCA1基因外显子 2和 2 0进行的突变分析 ,对乳腺癌的早期诊断、淋巴结转移和预后的判断有重要的意义。Objective: To detect the mutations of BRCA1 gene in young patients with breast cancer, and correlate its incidence with lymph node metastasis and other clinicopathological parameters Methods: Polymerase chain reaction polyacrylamide urea gel electrophoresis DNA silver staining was used to detect the mutations in exon 2 and 20 of BRCA1 gene in 30 cases of young patients with breast cancer under the age of 35 Results: Eight mutations were identified,5 in exon 2 and 3 in exon 20 The incidence of BRCA1 mutations in patients with axillary lymph node metastasis were higher than those without metastasis (38 9%vs 8 3%), and estrogen receptor positive cases had a lower incidence of BRCA1 gene than those negative one (5 36%vs 63 6 %) Conclusion: BRCA1 gene is correlated to axillary lymph node metastasis and estrogen receptor negative in young patients with breast cancer

关 键 词：乳腺癌 BRCA1基因 淋巴结转移 基因突变 

分 类 号：R737.9[医药卫生—肿瘤]