Lanjouw Lieke, Kramer Claire J H, Elst Arja Ter, de Bock Geertruida H, Gaarenstroom Katja N, Yigit Refika, Berger Lieke P V, van Asperen Christi J, Commandeur-Jan Sabrina Z, van der Hall Dimas M X, Jalving Mathilde, Kagie Marjolein J, van der Stoep Nienke, van Wezel Tom, Mourits Marian J E, Bosse Tjalling, Bart Joost
Department of Epidemiology, University of Groningen, University Medical Center Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Fam Cancer. 2025 May 5;24(2):43. doi: 10.1007/s10689-025-00467-7.
Identification of somatic and germline BRCA1/2 pathogenic variants in epithelial ovarian cancer (EOC) patients is essential for determining poly-(ADP-ribose)-polymerase (PARP) inhibitor sensitivity and genetic predisposition. In the Netherlands, BRCA1/2 testing changed to a tumor-first approach to efficiently identify both somatic and germline pathogenic variants in all patients. Here, we performed an in-depth evaluation of the first four years of the tumor-first test-pathway. Data of consecutive series of patients diagnosed with EOC in two regions were obtained from the Netherlands Cancer Registry. Tumor and/or germline test data were retrieved from hospital databases. The primary outcome was the percentage of patients completing the BRCA1/2 test-pathway, defined as having a negative tumor test or a referral for a germline test in case of a positive tumor test or no tumor test. Factors associated with test-pathway completion were identified through multivariable logistic regression analysis. In total, 69.8% (757/1085) completed the test-pathway. This was 74.4% in the most recent year. Younger patients, patients diagnosed in year three or four, patients with high-grade serous/high-grade endometrioid carcinoma, advanced stage disease, middle or high socioeconomic status, and patients who underwent surgery or chemotherapy, were more likely to complete the test-pathway. We report inequalities in genetic testing access in EOC patients, which highlight the need for better guideline adherence, particularly in older patients, those with low socioeconomic status, low-grade histotypes, early-stage disease and those without surgery or chemotherapy. Additionally, timely testing of patients, and testing relatives if patients cannot be tested, are crucial to increase test uptake.
鉴定上皮性卵巢癌(EOC)患者的体细胞和种系BRCA1/2致病变异对于确定聚(ADP-核糖)聚合酶(PARP)抑制剂敏感性和遗传易感性至关重要。在荷兰,BRCA1/2检测改为肿瘤优先方法,以有效识别所有患者的体细胞和种系致病变异。在此,我们对肿瘤优先检测途径的前四年进行了深入评估。从荷兰癌症登记处获得了两个地区连续系列诊断为EOC患者的数据。肿瘤和/或种系检测数据从医院数据库中检索。主要结局是完成BRCA1/2检测途径的患者百分比,定义为肿瘤检测阴性,或在肿瘤检测阳性或无肿瘤检测的情况下转诊进行种系检测。通过多变量逻辑回归分析确定与检测途径完成相关的因素。共有69.8%(757/1085)的患者完成了检测途径。在最近一年,这一比例为74.4%。年轻患者、在第三年或第四年诊断的患者、高级别浆液性/高级别子宫内膜样癌患者、晚期疾病患者、中等或高社会经济地位患者以及接受手术或化疗的患者更有可能完成检测途径。我们报告了EOC患者在基因检测可及性方面的不平等现象,这突出表明需要更好地遵循指南,特别是在老年患者、社会经济地位低的患者、低级别组织学类型患者、早期疾病患者以及未接受手术或化疗的患者中。此外,及时对患者进行检测,以及在患者无法检测时对亲属进行检测,对于提高检测接受率至关重要。