摘要
目的了解散发性乳腺癌及癌旁增生组织、乳腺不典型导管增生组织BRCA1基因启动子区甲基化状态,探讨其与乳腺癌发生的关系。方法采用甲基化特异性PCR(MSP)结合巢式PCR技术,研究23例散发性乳腺癌及其癌旁增生组织、6例乳腺不典型导管增生组织及5例健康成人女性外周血淋巴细胞中BRCA1基因启动子区甲基化状态。结果5例健康成人女性外周血淋巴细胞均表现BRCA1基因启动子区甲基化阴性;23例原发性乳腺癌组织中,BRCA1基因启动子区CpG岛甲基化率为65.22%(15/23);癌旁增生组织检出CpG岛甲基化者11例,甲基化率为47.83%(11/23),且均为癌组织阳性患者;6例乳腺不典型导管增生组织中,BRCA1基因启动子区CpG岛甲基化阳性者2例,甲基化率为33.33%(2/6);统计学检验结果表明,乳腺癌、癌旁增生组织之间,BRCA1基因启动子区甲基化阳性率无显著差异。结论BRCA1基因启动子区CpG岛甲基化是散发性乳腺癌发生过程中的早期事件,可能在乳腺癌发生中和乳腺增生病癌变过程中起重要生物学作用。
Purpose To understand the role of promoter methylation of BRCA1 gene in the development of sporadic breast cancers. Methods By methylation specific PCR combining with Nest-PCR, we detected promoter methylation status of BRCA1 gene in 23 samples of sporadic breast cancers and their adjacent hyperplasia tissues, 6 cases of breast atypical hyperplasia and 5 samples of peripheral lymphocytes from healthy adult women. Results We found BRCA1 promoter methylafion in 15 of sporadic breast cancer tissues （65.22%）. In 23 para-tumor tissues, 11 cases （47. 8% ） showed aberrant methylation of BRCA1 gene promoter. In the 6 cases of a- typical breast hyperplasia, 2 cases（ 33.3% ） showed aberrant methylation in the promoter region of BRCA1 gene, while in the 5 cases of healthy adult women＇s peripheral lymphocytes no methylation of BRCA1 gene was found. Conclusion The promoter methylation of BRCA1 gene is an early event in the development of breast cancer and may play an important biological role in breast carcinogenesis.
出处
《临床与实验病理学杂志》
CAS
CSCD
北大核心
2008年第2期141-145,153,共6页
Chinese Journal of Clinical and Experimental Pathology
