ReviewEuropean journal of human genetics : EJHG2016
New challenges for BRCA testing: a view from the diagnostic laboratory.
Review in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Radiogenomic profiling to determine BRCA alteration status-a systematic review and meta-analysis.The British journal of radiology · 2025Pooled it
- Expert Consensus on the Clinical Application of Poly ADP Ribose Polymerase Inhibitors in Breast Cancer (2025 Edition).Cancer innovation · 2026Article
- Pathological features of BRCA-mutated breast cancer in Shenzhen, China: a single-center study.PeerJ · 2026Article
- Storage Time and DNA Quality DetermineCancers · 2025Article
- Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam.PloS one · 2025Article
- Screening and Testing for Homologous Recombination Repair Deficiency (HRD) in Breast Cancer: an Overview of the Current Global Landscape.Current oncology reports · 2024Review
- BRCA testing and management of BRCA-mutated early-stage breast cancer: a comprehensive statement by expert group from GCC region.Frontiers in oncology · 2024Review
- From standard therapies to monoclonal antibodies and immune checkpoint inhibitors - an update for reconstructive surgeons on common oncological cases.Frontiers in immunology · 2024Review
- BRACNAC: AInternational journal of molecular sciences · 2023Article
- Molecular Testing in Ovarian Tumours: Challenges from the Pathologist's Perspective.Diagnostics (Basel, Switzerland) · 2023Review
- Challenges in next generation sequencing of homology recombination repair genomic variants in prostate cancer: A nationwide survey and calibration project in China.Prostate international · 2022Article
- Optimizing treatment selection and sequencing decisions for first-line maintenance therapy of newly diagnosed advanced ovarian cancer.Gynecologic oncology reports · 2022Review
- Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?International journal of oncology · 2022Article
- Article
- Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers.Scientific reports · 2022Article
- SF-qPCR: Strand Displacement-Based Fast Quantitative Polymerase Chain Reaction.Biochip journal · 2022Article
- Multi-gene panel testing increases germline predisposing mutations' detection in a cohort of breast/ovarian cancer patients from Southern Italy.Frontiers in medicine · 2022Article
- Sequencing ofOncotarget · 2022Article
- Correlation between the number of false positive variants and the quality of results using Ion Torrent PGM™ sequencing to screen BRCA genes.Biomedica : revista del Instituto Nacional de Salud · 2021Article
- Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.Cancers · 2021Article
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Increased demand for BRCA testing is placing pressures on diagnostic laboratories to raise their mutation screening capacity and handle the challenges associated with classifying BRCA sequence variants for clinical significance, for example interpretation of pathogenic mutations or variants of unknown significance, accurate determination of large genomic rearrangements and detection of somatic mutations in DNA extracted from formalin-fixed, paraffin-embedded tumour samples. Many diagnostic laboratories are adopting next-generation sequencing (NGS) technology to increase their screening capacity and reduce processing time and unit costs. However, migration to NGS introduces complexities arising from choice of components of the BRCA testing workflow, such as NGS platform, enrichment method and bioinformatics analysis process. An efficient, cost-effective accurate mutation detection strategy and a standardised, systematic approach to the reporting of BRCA test results is imperative for diagnostic laboratories. This review covers the challenges of BRCA testing from the perspective of a diagnostics laboratory.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.