文章：

精准肿瘤学的障碍与突破：基于国家妇科肿瘤登记处（NGOR）女性BRCA检测与PARP抑制剂应用率的全国性登记研究

Barriers and Breakthroughs in Precision Oncology: A National Registry Study ofBRCATesting and PARP Inhibitor Uptake in Women from the National Gynae-Oncology Registry (NGOR)

原文发布日期：31 July 2025

DOI: 10.3390/cancers17152541

类型: Article

开放获取: 是

英文摘要：

Background:The identification of pathogenic variants in the Breast Cancer Genes 1 and 2 (BRCA1/2) is a critical predictive biomarker for poly (ADP-ribose) polymerase inhibitor (PARPi) therapy in epithelial ovarian cancer (EOC). The aim of this study is to define real-world rates and determinants of germline and somaticBRCA1/2testing and subsequent PARPi utilisation in Australia using a national clinical quality registry.Methods:This multi-centre cohort study analysed data from 1503 women with non-mucinous EOC diagnosed between May 2017 and July 2022, captured by the Australian National Gynae-Oncology Registry (NGOR). We evaluated rates of germline and somatic testing and PARPi use, using multivariate logistic regression to identify associated clinical and demographic factors.Results: Overall germline and somatic testing rates were 68% and 32%, respectively. For the high-grade serous ovarian cancer (HGSOC) cohort, rates were higher, at 78% and 39%, respectively. Germline testing was significantly less likely for women aged >80 years (OR 0.49), those in regional areas (OR 0.61), and those receiving single-modality treatment. Somatic testing uptake increased significantly following public reimbursement for PARPi (p= 0.004). Among eligible women with a newly diagnosedBRCApathogenic variant and advanced disease (n= 110), 52% commenced first-line maintenance PARPi.Conclusions:This national study offers valuable insights into Australian ovarian cancer care, highlighting opportunities to enhance testing equity for older women (aged >80) and regional patients. Furthermore, it identifies the translation of a positive test into PARPi therapy as a complex area that warrants further collaborative investigation to optimise patient outcomes.

摘要翻译： 

背景：乳腺癌基因1和2（BRCA1/2）致病性变异的鉴定是上皮性卵巢癌（EOC）中聚腺苷二磷酸核糖聚合酶抑制剂（PARPi）治疗的关键预测性生物标志物。本研究旨在利用国家临床质量登记数据，明确澳大利亚现实中胚系与体细胞BRCA1/2检测率及其决定因素，以及后续PARPi的应用情况。 方法：这项多中心队列研究分析了澳大利亚国家妇科肿瘤登记处（NGOR）收录的1503例于2017年5月至2022年7月期间确诊的非黏液性EOC女性患者数据。我们评估了胚系与体细胞检测率以及PARPi使用率，并采用多变量逻辑回归分析确定相关的临床和人口统计学因素。 结果：总体胚系与体细胞检测率分别为68%和32%。在高级别浆液性卵巢癌（HGSOC）队列中，检测率更高，分别为78%和39%。年龄大于80岁（OR 0.49）、居住于偏远地区（OR 0.61）以及接受单一模式治疗的女性接受胚系检测的可能性显著降低。在PARPi获得公共报销后，体细胞检测率显著上升（p=0.004）。在携带新诊断BRCA致病性变异且患有晚期疾病的符合条件的女性（n=110）中，52%启动了PARPi一线维持治疗。 结论：这项全国性研究为澳大利亚卵巢癌诊疗提供了重要见解，强调了提升老年女性（年龄>80岁）和偏远地区患者检测公平性的改进空间。此外，研究指出将阳性检测结果转化为PARPi治疗是一个复杂领域，需要进一步协作研究以优化患者预后。

原文链接：

Barriers and Breakthroughs in Precision Oncology: A National Registry Study ofBRCATesting and PARP Inhibitor Uptake in Women from the National Gynae-Oncology Registry (NGOR)