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  • BRCA1/2 Testing Landscape i...
    Lanjouw, Lieke; Bart, Joost; Mourits, Marian J E; Willems, Stefan M; van der Hout, Annemieke H; Ter Elst, Arja; de Bock, Geertruida H

    Cancers, 2024-Apr-26, Letnik: 16, Številka: 9
    Journal Article

    Analyzing tumor 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 of tumor 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 and tumor tests were extracted. A total of 999 patients with advanced-stage EOC were included. Tumor tests were performed for 502 patients (50.2%) and TPVs 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 to . Overall, this study highlights the heterogeneity in the execution of tumor 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 reliable tumor testing, which is crucial for identifying all patients with TPVs.