ArticleJournal of personalized medicine2021
Reliability of Tumor Testing Compared to Germline Testing for Detecting BRCA1 and BRCA2 Mutations in Patients with Epithelial Ovarian Cancer.
Article in Journal of personalized medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed.
- BRCA genetic testing and counseling in breast cancer: how do we meet our patients' needs?NPJ breast cancer · 2024Review
- Laboratory Cross-Comparison and Ring Test Trial for TumorJournal of personalized medicine · 2022Article
- Corrected Allele Frequency of BRCA1/2 Mutations Is an Independent Prognostic Factor for Treatment Response to PARP-Inhibitors in Ovarian Cancer Patients.Journal of personalized medicine · 2022Article
- A commentary on the discrepancy between blood and tumour BRCA testing: An open question.BJOG : an international journal of obstetrics and gynaecology · 2022Article
- Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes.International journal of environmental research and public health · 2022Review
- Real-World Data on Detection of Germline and Somatic Pathogenic/Likely Pathogenic Variants inCancers · 2022Article
- Landscape of germline cancer predisposition mutations testing and management in pediatrics: Implications for research and clinical care.Frontiers in pediatrics · 2022Review
- Molecular Pathology of Cancer: The Past, the Present, and the Future.Journal of personalized medicine · 2021Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
backgroundBRCA 1/2 mutation status has become one of the most important parameters for treatment decision in patients with epithelial ovarian cancer (EOC). The aim of this study was to compare tumor DNA with blood DNA sequencing to evaluate the reliability of BRCA tumor testing results.
methodsPatients who were treated for EOC between 2003 and 2019 at the Medical University of Vienna and underwent both germline (gBRCA) and tumor (tBRCA) testing for BRCA mutations were identified. We calculated the concordance rate and further analyzed discordant cases.
resultsOut of 140 patients with EOC, gBRCA mutation was found in 47 (33.6%) and tBRCA mutation in 53 (37.9%) patients. Tumor testing identified an additional 9/140 (6.4%) patients with somatic BRCA mutation and negative germline testing. The comparison of germline testing with tumor testing revealed a concordance rate of 93.5% and a negative predictive value of tumor testing of 96.0%. After BRCA variants of uncertain significance were included in the analysis, concordance rate decreased to 90.9%.
conclusionTumor testing identified the majority of pathogenic germline BRCA mutations but missed three (2.1%) patients. In contrast, nine (6.4%) patients harboring a somatic BRCA mutation would have been missed by gBRCA testing only.
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