AnalyzingBRCA1/2tumor pathogenic variants (TPVs) in epithelial tubal/ovarian cancers (EOCs) has become an essential part of the diagnostic workflow in many centers to guide treatment options and genetic cascade testing. However, there is no standardization of testing procedures, including techniques, gene assays, or sequencers used, and data on the execution of tumor tests remains scarce. Therefore, we evaluated characteristics ofBRCA1/2tumor testing in advanced-stage EOC with real-world national data. Pathology reports of patients diagnosed with EOC in 2019 in the Netherlands were obtained from the Dutch Pathology Registry (PALGA), and data regarding histological subtype andBRCA1/2tumor tests were extracted. A total of 999 patients with advanced-stage EOC were included. Tumor tests were performed for 502 patients (50.2%) andBRCA1/2TPVs were detected in 14.7%. Of all tests, 48.6% used hybrid capture techniques and 26.5% used PCR-based techniques. More than half of the tests (55.0%) analyzed other genes in addition toBRCA1/2. Overall, this study highlights the heterogeneity in the execution ofBRCA1/2tumor tests. Despite a lack of evidence of quality differences, we emphasize that adequate reporting and internal and external quality monitors are essential for the high-quality implementation and execution of reliableBRCA1/2tumor testing, which is crucial for identifying all patients withBRCA1/2TPVs.
分析上皮性输卵管/卵巢癌（EOCs）中的BRCA1/2肿瘤致病性变异（TPVs）已成为许多医疗中心诊断流程的重要组成部分，用以指导治疗方案和遗传级联检测。然而，目前检测程序（包括所用技术、基因检测方法或测序仪）缺乏标准化，且关于肿瘤检测实施情况的数据仍然稀缺。因此，我们基于真实世界的全国性数据，评估了晚期EOC中BRCA1/2肿瘤检测的特征。通过荷兰病理学登记系统（PALGA）获取2019年诊断为EOC患者的病理报告，并提取组织学亚型和BRCA1/2肿瘤检测相关数据。共纳入999例晚期EOC患者。其中502例（50.2%）接受了肿瘤检测，14.7%检出BRCA1/2 TPVs。在所有检测中，48.6%采用杂交捕获技术，26.5%采用基于PCR的技术。超过半数的检测（55.0%）除BRCA1/2外还分析了其他基因。总体而言，本研究揭示了BRCA1/2肿瘤检测实施过程中的异质性。尽管缺乏质量差异的证据，我们强调充分的报告以及内部和外部质量监控对于高质量实施和执行可靠的BRCA1/2肿瘤检测至关重要，这对识别所有携带BRCA1/2 TPVs的患者具有关键意义。
BRCA1/2Testing Landscape in Ovarian Cancer: A Nationwide, Real-World Data Study
肿瘤(癌症)患者之家