ArticleJournal of medical genetics2021
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 62 citations in OpenAlex.
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- Genetic Findings of Potential Donor Origin in Cells Used for Cell and Gene Therapy: Recommendations from the World Marrow Donor Association.Transplantation and cellular therapy · 2026Review
- Association for Clinical Genomic Science (ACGS) guidelines for the classification of oncogenicity of somatic variants in cancer: recommendations by the UK somatic variant interpretation group (SVIG-UK).Journal of medical genetics · 2026Article
- Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance.European journal of human genetics : EJHG · 2025Article
- When two plus four does not equal six: Combining computational and functional evidence to classify BRCA1 key domain missense substitutions.American journal of human genetics · 2025Article
- Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data.Kidney international reports · 2025Article
- Patients with Papillary Renal Cancer and Germline Duplication ofBiomedicines · 2025Article
- Reclassification of VUS inGenetics in medicine open · 2025Article
- Reinterpretation of Conflicting ClinVarDiagnostics (Basel, Switzerland) · 2024Article
- PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.Hereditary cancer in clinical practice · 2024Article
- The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.Journal of medical genetics · 2024Article
- Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death.Human genomics · 2024Article
- Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies.Investigative ophthalmology & visual science · 2024Article
- Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.Journal of medical genetics · 2024Article
- Massive open online courses (MOOCs) in genomic variant interpretation: An innovative education strategy for the growing genetic counselor workforce.Journal of genetic counseling · 2024Article
- Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.Genome medicine · 2023Article
- Evaluating the use of paralogous protein domains to increase data availability for missense variant classification.Genome medicine · 2023Article
- Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce.BMC medical education · 2023Article
- Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.Molecular genetics and genomics : MGG · 2023Article
- Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.BMC cancer · 2023Article
Corrections and comments
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Authors and funding
16 authors at 11 institutions in 1 country.
Funding
Abstract
Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual elements of evidence has been much improved by the American College of Medical Genetics (ACMG) 2015 framework for variant classification, UK Association for Clinical Genomic Science (UK-ACGS) Best Practice Guidelines and subsequent Cancer Variant Interpretation Group UK (CanVIG-UK) consensus specification for CSGs. However, considerable inconsistency persists regarding practice in the combination of evidence elements. CanVIG-UK is a national subspecialist multidisciplinary network for cancer susceptibility genomic variant interpretation, comprising clinical scientist and clinical geneticist representation from each of the 25 diagnostic laboratories/clinical genetic units across the UK and Republic of Ireland. Here, we summarise the aggregated evidence elements and combinations possible within different variant classification schemata currently employed for CSGs (ACMG, UK-ACGS, CanVIG-UK and ClinGen gene-specific guidance for PTEN, TP53 and CDH1). We present consensus recommendations from CanVIG-UK regarding (1) consistent scoring for combinations of evidence elements using a validated numerical 'exponent score' (2) new combinations of evidence elements constituting likely pathogenic' and 'pathogenic' classification categories, (3) which evidence elements can and cannot be used in combination for specific variant types and (4) classification of variants for which there are evidence elements for both pathogenicity and benignity.
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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.