ArticleBMC medical genomics2022
How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?
Article in BMC medical genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Reclassification ofBiomolecules & biomedicine · 2026Article
- Not Forgotten: Patient Experiences with Genetic Variant Reclassifications.medRxiv : the preprint server for health sciences · 2026Article
- Lost in .*VCF Translation. From Data Fragmentation to Precision Genomics: Technical, Ethical, and Interpretive Challenges in the Post-Sequencing Era.Journal of personalized medicine · 2025Review
- Mutational spectrum of BRCA genes in Egyptian patients with breast cancer.Scientific reports · 2025Article
- Developing the MyCancerGene Digital Health Portal to Improve Patients' Understanding of Germline Cancer Genetic Test Results: Development, User, and Usability Testing Study.JMIR formative research · 2025Article
- DTreePred: an online viewer based on machine learning for pathogenicity prediction of genomic variants.BMC bioinformatics · 2025Article
- Causative Genes of Homologous Recombination Deficiency (HRD)-Related Breast Cancer and Specific Strategies at Present.Current oncology (Toronto, Ont.) · 2025Review
- Korean patients with hereditary cancer: a prospective multicentre cohort study protocol exploring psychosocial and health outcomes.BMJ open · 2025Article
- Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing.Genetics in medicine open · 2025Article
- Current insights and future directions of Li-Fraumeni syndrome.Discover oncology · 2024Review
- Article
- Assessment ofJCO clinical cancer informatics · 2024Article
- Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management.Kidney international reports · 2024Article
- Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients.European journal of human genetics : EJHG · 2023Article
- Paediatric Paraganglioma with Variant of Unknown Significance on Genetic Testing.Case reports in oncologyArticle
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Authors and funding
6 authors.
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Abstract
backgroundThe popularity of multigene testing increases the probability of identifying variants of uncertain significance (VUS). While accurate variant interpretation enables clinicians to be better informed of the genetic risk of their patients, currently, there is a lack of consensus management guidelines for clinicians on VUS.
methodsAmong the BRCA1 and BRCA2 mutations screening in 3,544 subjects, 236 unique variants (BRCA1: 86; BRCA2: 150) identified in 459 patients were being reviewed. These variants consist of 231 VUS and 5 likely benign variants at the initial classification.
resultsThe variants in 31.8% (146/459) patients were reclassified during the review, which involved 26 unique variants (11.0%). Also, 31 probands (6.8%) and their family members were offered high-risk surveillance and related management after these variants were reclassified to pathogenic or likely pathogenic. At the same time, 69 probands (15%) had their VUS downgraded to cancer risk equivalent to the general population level.
conclusionA review of archival variants from BRCA1 and BRCA2 genetic testing changed the management for 31.8% of the families due to increased or reduced risk. We encourage regular updates of variant databases, reference to normal population and collaboration between research laboratories on functional studies to define the clinical significances of VUS better.
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