Background/Objectives: Ovarian cancer is the most lethal gynecologic malignancy due to its late diagnosis, aggressive disease course, and high likelihood of recurrence. In the last few years, with the advent of high-throughput genomic methodologies, our understanding of ovarian cancer genetics and biology has grown. In this review, we discuss current monitoring techniques, as well as biomarker-directed therapies, recently developed for ovarian cancer treatment.Methods: The primary literature and review articles were obtained through PUBMED searches of “ovarian cancer”, “biomarkers”, “CA125”, “circulating tumor DNA”, “BRCA”, “HER2”, “TROP2”, and “FOLR1.”Results and Conclusions: The detection and quantification of CA125, a protein biomarker, remains the primary test used in the clinic for ovarian cancer diagnosis and monitoring. However, liquid biopsy techniques involving circulating tumor DNA, used alone or in combination with CA125, are increasingly used to enhance diagnostic accuracy and provide a more comprehensive picture of tumor genomic changes, including single-nucleotide variants, copy number variations, and epigenetic alterations. In the last few years, the use of BRCA, HER2, TROP2, and FOLR1 as biomarkers for targeted treatment has demonstrated promising results, both preclinically and clinically. The detection of BRCA1/2 mutations is routinely used as a strong predictor of response to PARP inhibitors, while HER2, TROP2, and FOLR1 expressions have emerged as primary targets for the treatment of recurrent ovarian cancer patients using novel antibody–drug conjugates (ADCs).
背景/目的：卵巢癌因其诊断延迟、病程侵袭性强及复发率高，成为致死率最高的妇科恶性肿瘤。近年来，随着高通量基因组学技术的兴起，我们对卵巢癌遗传学与生物学的认知不断深化。本综述将探讨当前卵巢癌的监测技术，以及近年来针对卵巢癌治疗开发的生物标志物导向疗法。 方法：通过PUBMED数据库检索"卵巢癌"、"生物标志物"、"CA125"、"循环肿瘤DNA"、"BRCA"、"HER2"、"TROP2"及"FOLR1"等关键词，系统收集相关原始文献与综述文章。 结果与结论：蛋白标志物CA125的检测与定量分析仍是目前临床诊断和监测卵巢癌的主要手段。然而，基于循环肿瘤DNA的液体活检技术正日益普及，既可单独应用也可与CA125联合使用，不仅能提升诊断准确性，还能更全面地揭示肿瘤基因组变异特征，包括单核苷酸变异、拷贝数变异和表观遗传学改变。近年来，BRCA、HER2、TROP2和FOLR1作为靶向治疗生物标志物的应用在临床前及临床研究中均展现出良好前景。BRCA1/2突变检测已成为预测PARP抑制剂疗效的重要指标，而HER2、TROP2和FOLR1的表达水平则成为新型抗体药物偶联物治疗复发性卵巢癌患者的主要靶点。
肿瘤(癌症)患者之家