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目的 探讨原发性乳腺癌肿瘤组织中BRCA1和APC基因启动子区甲基化状况与新辅助化疗疗效的相关性.方法 应用甲基化特异PCR方法,对140例原发性乳腺癌患者术前穿刺样本进行BRCA1和APC基因启动子甲基化状态检测,分析其与新辅助化疗疗效的相关性.结果 140例原发性乳腺癌患者接受蒽环类新辅助化疗后,病理完全缓解(pCR)率为21.4%(30/140),BRCA1和APC基因启动子甲基化率分别为21.4%(30/140)和18.3%(24/131).在110例BRCA1基因非甲基化患者中,pCR率为25.5%(28/110);在30例BRCA1基因甲基化患者中,pCR率为6.7%(2/30),差异有统计学意义(χ2=4.94,P=0.026).APC基因甲基化状态与患者的pCR率之间无显著相关性(P>0.05).结论 在原发性乳腺癌患者中,BRCA1基因非甲基化者更容易获得pCR,检测BRCA1基因甲基化状态对评判原发性乳腺痛新辅助化疗疗效可能具有一定的指导意义.

Objective To investigate the correlation of hypermethylation of BRCA1 and APC gene promoters with the response to anthracycline-based neoadjuvant chemotherapy in primary breast cancer. Methods One hundred and forty patients with primary breast cancer received anthracycline-based neoadjuvant chemotherapy, and pretreatment hypermethylation status of BRCA1 and APC genes promoters was detected by methylation-specific PCR. Results Of the 140 patients, 30 (21.4%) achieved pathological complete response (pCR), and methylation rates of BRCA1 and APC gene promoters were 21.4% (30/140) and 18.3% (24/131), respectively. Among the 110 patients with unmethylated BRCA1 gene, 28 (25.5%) achieved pCR,while in the 30 patients with methylated BRCA1 gene, only 2 (6.7%) had a pCR, with a significant difference between the two groups (χ2=4.94, P=0.026). However, no statistically significant correlation was found between the methylation of APC gene and pCR to neoadjuvant chemotherapy in this cohort of patients (P>0.05). Conclusion Primary breast cancer with an unmethylated BRCA1 gene is prone to achieve a pathological complete response to anthracyeline-based neoadjuvant chemotherapy than those with a methylated BRCA1 gene. BRCA1 methylation status may be a useful predictor for anthracycline-based neoadjuvant chemotherapy in primary breast cancer patients.