ArticleMolecular oncology2021
Tumor and germline next generation sequencing in high grade serous cancer: experience from a large population-based testing program.
Article in Molecular oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- Opportunities to improve detection of genetic predisposition for ovarian cancer applying the Tumor-First workflow.Familial cancer · 2026Article
- Tumor and germline testing with next generation sequencing in epithelial ovarian cancer: a prospective paired comparison using an 18-gene panel.Molecular oncology · 2026Article
- Homologous Recombination Deficiency (HRD) Scoring, by Means of Two Different Shallow Whole-Genome Sequencing Pipelines (sWGS), in Ovarian Cancer Patients: A Comparison with Myriad MyChoice Assay.International journal of molecular sciences · 2023Article
- Healthcare professionals' perspectives on implementation of universal tumor DNA testing in ovarian cancer patients: multidisciplinary focus groups.Familial cancer · 2023Article
- Germline Testing and Somatic Tumor Testing forJCO precision oncology · 2022Article
- Article
- Practice guidelines forJournal of medical genetics · 2022Review
- A commentary on the discrepancy between blood and tumour BRCA testing: An open question.BJOG : an international journal of obstetrics and gynaecology · 2022Article
- Review
- Reflex BRCA1 and BRCA2 tumour genetic testing for high-grade serous ovarian cancer: streamlined for clinicians but what do patients think?Hereditary cancer in clinical practice · 2022Article
- VHL mosaicism: the added value of multi-tissue analysis.NPJ genomic medicine · 2022Article
- Corrigendum to: Tumor and germline next generation sequencing in high grade serous cancer: experience from a large population-based testing program.Molecular oncology · 2021Article
- Reliability of Tumor Testing Compared to Germline Testing for Detecting BRCA1 and BRCA2 Mutations in Patients with Epithelial Ovarian Cancer.Journal of personalized medicine · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of this study was to determine the prevalence of somatic and germline pathogenic variants (PVs) in high-grade serous cancer (HGSC) and to demonstrate the technical feasibility and effectiveness of a large-scale, population-based tumor testing program. It involved a retrospective review of genetic test results in 600 consecutive HGSC tumor samples and a subsequent comparison of germline and tumor results in a subset of 200 individuals. Tumor testing was successful in 95% of samples (570/600) with at least one BRCA1/2 PV identified in 16% (93/570) of cases. Among the 200 paired cases, BRCA1/2 PVs were detected in 38 tumors (19%); 58% were somatic (22/38); and 42% were germline (16/38). There was 100% concordance between germline and tumor test results. This is the largest series of BRCA1/2 testing in HGSC (tumor-only and paired cohorts), reported to date, and our data show that an effectively designed and validated population-based tumor testing program can be used to determine both treatment eligibility and hereditary cancer risk.
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