ArticleOncotarget2016
BRCA somatic and germline mutation detection in paraffin embedded ovarian cancers by next-generation sequencing.
Article in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
42 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Global prevalence and ethnic variation of pathogenic BRCA1/2 variants in breast cancer: a systematic review and meta-analysis.Journal of translational medicine · 2026Pooled it
- Extranodal extension of lymph node metastasis influences recurrence in prostate cancer: a systematic review and meta-analysis.Scientific reports · 2017Pooled it
- IdentifiHR predicts homologous recombination deficiency in high-grade serous ovarian carcinoma using gene expression.Communications medicine · 2026Article
- Prevalence of BRCA1/2 Mutation in High-Grade Non-Mucinous Ovarian Carcinoma.Asian Pacific journal of cancer prevention : APJCP · 2025Observational
- Article
- Storage Time and DNA Quality DetermineCancers · 2025Article
- Cost-Effectiveness Analysis of Germline and SomaticAnnals of laboratory medicine · 2023Article
- Laboratory Cross-Comparison and Ring Test Trial for TumorJournal of personalized medicine · 2022Article
- BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer.Hereditary cancer in clinical practice · 2022Article
- Patient Experience with a Gynecologic Oncology-Initiated Genetic Testing Model for Women with Tubo-Ovarian Cancer.Current oncology (Toronto, Ont.) · 2022Article
- Identification of the c.829_832delAATA Deletion Variants in theJournal of genomics · 2022Article
- Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: the PREDICT study.BMC cancer · 2021Observational
- Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.Cancer science · 2021Observational
- Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol.Journal of personalized medicine · 2021Article
- Practical considerations for optimising homologous recombination repair mutation testing in patients with metastatic prostate cancer.The journal of pathology. Clinical research · 2021Review
- 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
- The Combination of Single-Cell and Next-Generation Sequencing Can Reveal Mosaicism forCancers · 2021Article
- Article
- Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements.Cancers · 2020Article
- Article
Corrections and comments
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BRCA mutated ovarian cancers respond better to platinum-based therapy and to the recently approved PARP-inhibitors. There is the need for efficient and timely methods to detect both somatic and germline mutations using formalin-fixed paraffin-embedded (FFPE) tissues and commercially available technology. We used a commercial kit exploring all exons and 50bp exon-intron junctions of BRCA1 and BRCA2 genes, and semiconductor next-generation sequencing (NGS) on DNA from 47 FFPE samples of high-grade serous ovarian cancers. Pathogenic mutations were found in 13/47 (28%) cancers: eight in BRCA1 and five in BRCA2. All BRCA1 and two BRCA2 mutations were germline; three BRCA2 mutations were somatic. All mutations were confirmed by Sanger sequencing. To evaluate the performance of the NGS panel, we assessed its capability to detect the 6,953 variants described for BRCA1 and BRCA2 in ClinVar and COSMIC databases using callability analysis. 6,059 (87.1%) variants were identified automatically by the software; 829 (12.0%) required visual verification. The remaining 65 (0.9%) variants were uncallable, and would require 15 Sanger reactions to be resolved. Thus, the sensitivity of the NGS-panel was 99.1%. In conclusion, NGS performed with a commercial kit is highly efficient for detection of germline and somatic mutations in BRCA genes using routine FFPE tissue.
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