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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 understand the mutation of BRCA1 gene in young breast cancer patients and to explore the relationship between BRCA1 gene mutations and axillary lymph node metastases. METHODS: Polymerase chain reaction (PCR)-denatured polyacrylamide gel electrophoresis (PAUGE)-DNA silver staining was used to study the mutation of exon 2 and mutation 20 of BRCA1 gene in 30 breast cancer patients aged 35 years. . RESULTS: Eight mutations were detected, the mutation rate was 26.7%, 5 were in exon 2, and 3 were in exon 20. The BRCA1 mutation rate in breast cancer with axillary lymph node metastases was 389%, compared with only 83% in those without metastases. In patients with axillary lymph node metastases >50%, compared with patients with axillary lymph node metastases < 50%, the former BRCA1 gene mutation rate was significantly higher than the latter (71 4% vs 18 2%). The BRCA1 mutation rate of estrogen receptor-positive breast cancer was significantly lower than that of estrogen receptor-negative breast cancer (5.36% vs 66.3%). Conclusion: There is a correlation between young breast cancer and BRCA1 gene mutation; BRCA1 gene mutation is positively correlated with axillary lymph node metastasis and negatively correlated with estrogen receptor positive; mutation analysis of exons 2 and 20 of BRCA1 gene is performed on breast The early diagnosis of cancer, lymph node metastasis and the judgment of prognosis are of great significance.