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目的 研究BRCA1基因启动子CpG区甲基化的改变与乳腺癌临床病理特征的关系。方法 采用甲基化特异PCR技术(MSP法)对60例乳腺浸润性导管癌标本进行了BRCA1启动子CpG区基因甲基化研究,并分析与其临床病理特征的关系。结果 60例乳腺癌患者标本中有13例(21.7％)呈BRCA1 CpG区甲基化阳性。Ⅲ级病人BRCA1 CpG区甲基化发生率(80.0％)明显高于Ⅱ级病人(12.5％)和Ⅰ级病人(5.5％)。淋巴结转移患者BRCA1甲基化发生率(37.0％)明显高于无转移的患者(9.1％)。结论 BRCA1启动子区甲基化导致BRCA1抑癌基因失活,参与乳腺癌的发生和发展。乳腺癌患者BRCA1 CpG区甲基化与分级、淋巴结转移有关。BRCA1甲基化可能可以作为估计乳腺癌患者预后的一个指标。
Objective To study the relationship between the methylation status of CpG region in BRCA1 gene promoter and the clinicopathological features of breast cancer. METHODS: Methylation-specific PCR (MSP) was used to study the methylation status of BRCA1 promoter CpG gene in 60 breast invasive ductal carcinoma specimens, and their relationship with clinicopathological features was analyzed. Results Among the 60 breast cancer patients, 13 (21.7%) were positive for methylation in the BRCA1 CpG region. The incidence of methylation in the BRCA1 CpG region was significantly higher in grade III patients (80.0%) than in grade II patients (12.5%) and grade I patients (5.5%). The incidence of methylation of BRCA1 in lymph node metastases (37.0%) was significantly higher than that in patients without metastasis (9.1%). Conclusion The methylation of BRCA1 promoter region leads to the inactivation of BRCA1 tumor suppressor gene and participates in the occurrence and development of breast cancer. The methylation of BRCA1 CpG region in breast cancer patients is associated with grade and lymph node metastasis. Methylation of BRCA1 may be used as an indicator to estimate the prognosis of breast cancer patients.