ArticleBJOG : an international journal of obstetrics and gynaecology2022
The detection of germline and somatic BRCA1/2 genetic variants through parallel testing of patients with high-grade serous ovarian cancer: a national retrospective audit.
Article in BJOG : an international journal of obstetrics and gynaecology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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11 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.European journal of human genetics : EJHG · 2024Guideline
- Exploring the somatic mutational landscape of ovarian cancer in Estonia.Acta oncologica (Stockholm, Sweden) · 2026Article
- Homologous recombination repair and breast cancer gene testing in prostate cancer: expert perspectives and practical guidance on best practice from sample acquisition to biomarker-informed clinical decision-making.Frontiers in oncology · 2026Article
- Nationwide implementation and evaluation of the Tumor-First workflow for genetic testing in ovarian carcinoma.International journal of cancer · 2025Article
- Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.Molecular genetics & genomic medicine · 2023Article
- Is Reflex GermlineCancers · 2023Article
- Molecular Management of High-Grade Serous Ovarian Carcinoma.International journal of molecular sciences · 2022Review
- A commentary on the discrepancy between blood and tumour BRCA testing: An open question.BJOG : an international journal of obstetrics and gynaecology · 2022Article
- Clinical Landscape of PARP Inhibitors in Ovarian Cancer: Molecular Mechanisms and Clues to Overcome Resistance.Cancers · 2022Review
- The Feasibility of Implementing Mainstream Germline Genetic Testing in Routine Cancer Care-A Systematic Review.Cancers · 2022Review
- The detection of germline and somatic BRCA1/2 genetic variants through parallel testing of patients with high-grade serous ovarian cancer: a national retrospective audit.BJOG : an international journal of obstetrics and gynaecology · 2022Article
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11 authors at 6 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
objectiveTo determine the frequency of germline and somatic pathogenic BRCA1 and BRCA2 variants in patients with high-grade serous ovarian cancer tested by next-generation sequencing (NGS), with the aim of defining the best strategy to be implemented in future routine testing.
designNational retrospective audit.
settingThe All Wales Medical Genomics Service (AWMGS). POPULATION: Patients with high-grade serous ovarian/fallopian tube/peritoneal cancer referred by oncologists to the AWMGS between February 2015 and February 2021 for germline and/or tumour testing of the BRCA1 and BRCA2 genes by NGS.
methodsAnalysis of NGS data from germline and/or tumour testing.
main outcome measuresFrequency of BRCA1 and BRCA2 pathogenic variants.
resultsThe overall observed germline/somatic pathogenic variant detection rate was 11.6% in the 844 patients included in this study, with a 9.2% (73/791) germline pathogenic variant detection rate. Parallel tumour and germline testing was carried out for 169 patients and the overall pathogenic variant detection rate for this cohort was 14.8%, with 6.5% (11/169) shown to have a somatic pathogenic variant. Two BRCA1 dosage variants were found during germline screens, representing 2.0% (2/98) of patients with a pathogenic variant that would have been missed through tumour testing alone.
conclusionsParallel germline and tumour BRCA1 and BRCA2 testing maximises the detection of pathogenic variants in patients with high-grade serous ovarian cancer. TWEETABLE ABSTRACT: Parallel germline and tumour testing maximises BRCA pathogenic variant detection in ovarian cancer.
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