310例卵巢癌BRCA1/2基因突变分析  

BRCA1/2 gene mutation analysis in 310 cases of ovarian cancer

作　　者：韩江雪 杨悦[2] HAN Jiangxue;YANG Yue(School of Medicine,Shaoxing University,Zhejiang,312000;Zhejiang Cancer Hospital,Hangzhou,310022)

机构地区：[1]绍兴文理学院医学院,浙江312000 [2]浙江省肿瘤医院妇瘤外科,杭州310022

出　　处：《中国生育健康杂志》2025年第3期235-240,共6页Chinese Journal of Reproductive Health

摘　　要：目的探讨中国东部地区部分卵巢癌患者BRCA基因突变情况及临床特征,分析与其他地区的差异。方法对310例卵巢癌患者行BRCA1/2基因检测,并收集患者年龄、病理类型及术前肿瘤标记物CA125、HE4。同时,收集不同国家BRCA1/2基因在卵巢癌中的突变率和常见突变体。结果本研究310例非选择性卵巢癌患者中,有87例(28.1%)存在BRCA1/2基因突变,其中BRCA1突变64例(20.1%),BRCA2突变23例(8.0%)。BRCA1突变患者共有45个突变,其中c.5470-5477del和c.981-982del突变最为常见。BRCA2突变患者共发现22个突变,其中c.6373-6374insA突变最为常见。BRCA基因突变与年龄、病理类型、血清CA125、HE4均无统计学意义(P>0.05)。结论BRCA基因突变在不同国家和地区间存在显著差异。Objective The aim of this study is to investigate the BRCA gene mutations and clinical characteristics of ovarian cancer patients in eastern China,and to analyze the differences with other regions.Methods BRCA1/2 gene detection was performed on 310 patients with ovarian cancer.Information on patient age,pathological type,and preoperative tumor markers CA125 and HE4 was collected.Information on mutation rates and common mutations of the BRCA1/2 gene in ovarian cancer from different countries was also collected.Results A total of 310 patients with nonselective ovarian cancer were selected for this study,of which 87(28.1%)had BRCA1/2 mutations,including 64(20.1%)BRCA1 mutations and 23(8.0%)BRCA2 mutations.A total of 45 mutations were found in patients with BRCA1 mutations,with c.5470-5477del and c.981-982del mutations being the most common.A total of 22 mutations were found in patients with BRCA2 mutations,with c.6373-6374insA mutations being the most common.BRCA gene mutations were not significantly related to age,pathologic type,serum CA125,or HE4(P>0.005).Conclusion There are significant differences in BRCA gene mutations among different countries and regions.

关 键 词：卵巢癌 BRCA基因 突变 患病率 

分 类 号：R71[医药卫生—妇产科学]