中国上皮性卵巢癌的多基因种系和体细胞检测
Multigene germline and somatic testing for epithelial ovarian cancer in China.
作者信息
Li Lei, Zhang Jianwei, Song Nan, Sun Bao, Zhang Depu, Li Yi, Gao Yunong, Wu Kui, Li Qingshui, Lin Cong, Cui Heng, Cao Boyang, Wang Lusheng, Shao Kang, You Yan, Wu Huanwen, Lang Jinghe, Wu Ming
机构信息
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Beijing, China.
National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing, China.
出版信息
NPJ Precis Oncol. 2025 Aug 13;9(1):281. doi: 10.1038/s41698-025-01074-6.
This study investigated BRCA1/2 and homologous recombination repair (HR) pathway gene variants in Chinese epithelial ovarian cancer (EOC) patients. Germline and somatic variants in 21 HR-related genes were analyzed in 229 patients using a 21-gene ovarian panel and in 141 patients using a 508-gene pan-cancer panel. BRCA1, BRCA2, and HR-related gene mutation rates were 17.9%, 3.5%, and 23.1%, respectively, with TP53 as the most frequent somatic mutation (66.4%). Combined germline and somatic BRCA1/2 mutation rates rose to 23.6 and 6.1%. Survival analysis (n = 200) demonstrated longer overall survival (OS) in patients carrying BRCA1/2 or HR mutations. Notably, strategies including likely pathogenic (LP) and variants of uncertain significance (VUS) showed improved OS, especially in BRCA2 and BRCA1/2 somatic carriers. These findings suggest that integrating germline, somatic, and VUS data enhances survival prediction and guides treatment decisions in Chinese EOC patients.
本研究调查了中国上皮性卵巢癌（EOC）患者中BRCA1/2及同源重组修复（HR）途径基因变异情况。使用21基因卵巢检测panel对229例患者以及使用508基因泛癌检测panel对141例患者分析了21个HR相关基因的种系和体细胞变异。BRCA1、BRCA2及HR相关基因突变率分别为17.9%、3.5%和23.1%，其中TP53是最常见的体细胞突变（66.4%）。种系和体细胞BRCA1/2联合突变率分别升至23.6%和6.1%。生存分析（n = 200）显示，携带BRCA1/2或HR突变的患者总生存期（OS）更长。值得注意的是，包括可能致病（LP）和意义未明变异（VUS）在内的策略显示OS有所改善，尤其是在BRCA2及BRCA1/2体细胞携带者中。这些发现表明，整合种系、体细胞和VUS数据可提高中国EOC患者的生存预测并指导治疗决策。
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