Michalczyk Kaja, Mokrzycka Agata, Rudzińska Marianna, Michalczyk Barbara, Menkiszak Janusz, Chudecka-Głaz Anita
Department of Gynecological Surgery and Gynecological Oncology of Adults and Adolescents, Pomeranian Medical University, Powstancow Wielkopolskich 72, 70-111 Szczecin, Poland.
Department of Neonatology and Neonatal Intensive Care Subunit, ul. Dekerta 1, 66-400 Gorzow Wielkopolski, Poland.
Genes (Basel). 2025 Jul 27;16(8):883. doi: 10.3390/genes16080883.
BACKGROUND/OBJECTIVES: Mutations in the and genes are well-known risk factors for ovarian cancer. They are also associated with response to platinum-based chemotherapy; however, their definitive impact on patient prognosis remains not fully understood. This study aimed to investigate the influence of mutation status on the age of ovarian cancer onset and on treatment outcomes in patients with high-grade serous ovarian cancer.
This single-center retrospective analysis included newly diagnosed FIGO stage III and IV HGSOC patients treated between June 2018 and April 2023. Patients' age, tumor histology, CA125 levels, mutation status, type of treatment (neoadjuvant or adjuvant chemotherapy), and surgical outcomes were collected and analyzed. Survival analyses were performed using the Kaplan-Meier method and log-rank test.
Pathogenic mutations were identified in 25 patients (15 in , 10 in ). Patients with a mutation were diagnosed at a significantly younger age (median 58.78 years) compared to non-carriers (66.81 years; < 0.001), with carriers being diagnosed the youngest (median 46.52 years). The study found no statistically significant difference in progression-free survival (PFS) between carriers and non-carriers. However, a significant improvement in overall survival (OS) was observed for patients with a mutation ( = 0.036). No significant OS difference was found for carriers.
mutations, particularly in the gene, are associated with an earlier onset ovarian cancer. mutation appears to be a favorable prognostic factor for overall survival in patients with HGSOC. Our findings demonstrate the clinical implications of different mutations and support the need for further research in larger cohorts to confirm their influence on prognostic effects.
背景/目的：BRCA1和BRCA2基因的突变是卵巢癌众所周知的危险因素。它们也与铂类化疗的反应相关；然而，它们对患者预后的确切影响仍未完全了解。本研究旨在调查BRCA突变状态对高级别浆液性卵巢癌患者卵巢癌发病年龄和治疗结果的影响。
这项单中心回顾性分析纳入了2018年6月至2023年4月期间新诊断的FIGO III期和IV期高级别浆液性卵巢癌患者。收集并分析了患者的年龄、肿瘤组织学、CA125水平、BRCA突变状态、治疗类型（新辅助或辅助化疗）和手术结果。使用Kaplan-Meier方法和对数秩检验进行生存分析。
在25名患者中发现了致病性突变（BRCA1中有15名，BRCA2中有10名）。与非携带者（66.81岁；P<0.001）相比，BRCA突变患者的诊断年龄明显更小（中位年龄58.78岁），其中BRCA1携带者诊断时最年轻（中位年龄46.52岁）。研究发现BRCA携带者和非携带者之间的无进展生存期（PFS）没有统计学上的显著差异。然而，观察到BRCA突变患者的总生存期（OS）有显著改善（P=0.036）。BRCA2携带者未发现显著的OS差异。
BRCA突变，特别是BRCA1基因中的突变，与卵巢癌发病较早有关。BRCA1突变似乎是高级别浆液性卵巢癌患者总生存期的一个有利预后因素。我们的研究结果证明了不同BRCA突变的临床意义，并支持需要在更大的队列中进行进一步研究以确认它们对预后效果的影响。
