ArticleGenetics in medicine open2025
Reclassification of VUS in
Article in Genetics in medicine open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Clinical impact of ENIGMA-based variant reclassification on genotype-phenotype analyses in BRCA1- and BRCA2-associated hereditary breast and ovarian cancer.Breast cancer (Tokyo, Japan) · 2026Article
- Validation structures for sequence variants of uncertain significance in hereditary cancer.European journal of human genetics : EJHG · 2026Review
- Reclassification ofMedicina (Kaunas, Lithuania) · 2026Article
- Germline Genetic Testing in Breast and Gynecologic Cancers: Evaluating Age at Diagnosis as a Determinant.Cancers · 2026Article
- Cancer genomic profiling predicts pathogenicity ofmedRxiv : the preprint server for health sciences · 2026Article
- Reclassification ofEuropean journal of breast health · 2025Article
- The Frequency and Reclassification of Variants Uncertain Significance in Hereditary Breast and Ovarian Cancer Among Levantine Patients.Cancer management and research · 2025Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
Purpose: Variants of uncertain significance (VUS) are considered one of the most significant impediments to the translation of genetic test results into precise clinical recommendations. The 2015 American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) classification guidelines established a general framework for the assessment and classification of genetic variants; yet, gene-specific specifications are needed to enable better variant classification to reduce the number of VUS. The process of gene-specific adaptations of the ACMG/AMP codes is led and accompanied by ClinGen and implemented by Variant Curation Expert Panels (VCEP). The Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) VCEP recently published its specifications for the Methods: We reclassified 121 VUS identified in these genes with the latest annotation data using the standard ACMG/AMP classification system and recommendations from the Sequence Variant Interpretation and the ENIGMA specifications. To simplify the reevaluation process, we have created a University of California Santa Cruz Genome Browser track hub that displays the exact data points required for variant classification using the ENIGMA VCEP specifications at the exon and variant level (https://genome.ucsc.edu/s/abenet/BRCA.ENIGMA.hg19). Results: By comparing the codes used and their different weighting in the 2 approaches, we were able to demonstrate the superiority of the application of ENIGMA VCEP specifications, which resulted in a dramatic reduction of VUS (83.5% ENIGMA VCEP vs 20% ACMG/AMP + Sequence Variant Interpretation). Conclusion: For the diagnostic analysis of the
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