Abstract: As the treatment for epithelial ovarian cancer moves into precision medicine，the importance of genetic testing to determine mutations in cancer susceptibility genes has grown. Test for germline BRCA1/2 mutations is routinely recommended in all women diagnosed with epithelial ovarian cancer，to identify hereditary epithelial ovarian cancer and inform patients' medical decisions and those of their relatives. Other cancer susceptibility genes，such as homologous recombination deficient（HRD）genes and mismatch repair（MMR）genes，are also associated with inherited risk of ovarian cancer，and numerous ongoing studies are investigating their utility in predicting therapeutic response. This paper will discuss how to conduct clinical practice in genetic testing for epithelial ovarian cancer，and hope to guide therapeutic options for patients’ individualized treatment.

Key words: ovarian cancer, genetic testing, susceptibility genes, normalization

摘要： 随着卵巢癌精准治疗的全面推广，肿瘤易感基因检测的需求日益增长。国内外指南均建议卵巢癌患者在初次病理确诊时进行BRCA1/2胚系基因检测，以确定是否为遗传性上皮性卵巢癌，同时可预测患者对聚腺苷二磷酸核糖聚合酶（poly ADP-ribose polymerase，PARP）抑制剂的获益。准确识别遗传性上皮性卵巢癌，可使患者从个体化治疗中获益，同时对其一级和二级亲属的肿瘤防治意义重大。其他易感基因，例如错配修复（mismatch repair，MMR）基因和同源重组缺陷（homologous recombination deficiency，HRD）相关基因，也在卵巢癌发生中起到关键作用，同时也对卵巢癌患者的治疗决策起到关键作用。文章就卵巢癌基因检测的规范化进行综合探讨分析，以期为卵巢癌个体化诊疗策略提供更具指导性的基因检测依据。

关键词: 卵巢癌, 基因检测, 易感基因, 规范化