ArticleNPJ precision oncology2025
Multigene germline and somatic testing for epithelial ovarian cancer in China.
Article in NPJ precision oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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.
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