ArticleGenetics in medicine : official journal of the American College of Medical Genetics2024
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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33 citing papers in PubMed, 27 citations in OpenAlex.
- An update on APC I1307K homozygosity: observations from a large multigene panel testing cohort.Familial cancer · 2026Article
- Minigene-based characterization and classification of splice-associated variants in succinate dehydrogenase B.NPJ precision oncology · 2026Article
- Evaluation of ACMG/AMP guidelines for classifying APC variants in Korean patients with suspected familial adenomatous polyposis.Cancer cell international · 2026Article
- predNMD: prediction of nonsense-mediated mRNA decay for improved clinical variant pathogenicity classification.bioRxiv : the preprint server for biology · 2026Article
- Optimising POU3F4 variant interpretation through gene-specific evidence in X-linked hearing loss.EBioMedicine · 2026Article
- European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.Orphanet journal of rare diseases · 2026Review
- Disease- and gene-specific deep learning for pathogenicity prediction of rare missense variants in cancer predisposition genes.BioData mining · 2026Article
- Lynch Syndrome as a Spectrum of Four Distinct Genetic Disorders: Toward Genotype-Guided Precision Management in the NGS Era.Cancers · 2026Review
- An accurate cellular assay to determine pathogenicity of coding and noncoding variants in Lynch syndrome genes.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Integrated Genetic Risk Stratification Identifies High Adenoma Detection Rates at Colonoscopy in a Real-World US Health System.Gastro hep advances · 2026Article
- Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines.Human mutation · 2026Article
- Frequent Detection ofHuman mutation · 2026Article
- The Performance ofHuman mutation · 2026Article
- Computational screening of oncogenic genetic variations in tumor suppressor proteins driving gastric cancer pathogenesis.PloS one · 2026Article
- The c.1744G > C, p.(Glu582Gln) missense variant in coding exon 14 of APC increases skipping of a natural occurring isoform and causes Familial Adenomatous Polyposis.Journal of cancer research and clinical oncology · 2025Article
- APC-related multiple salivary gland lesions: spatial transcriptomic analysis reveals progressive WNT activation.The Journal of pathology · 2025Article
- The landscape of germline variants in breast and colorectal cancer susceptibility genes in patients with pituitary tumours.Journal of neuro-oncology · 2025Article
- Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance.European journal of human genetics : EJHG · 2025Article
- SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges.American journal of human genetics · 2025Article
- Polygenic Score Complements Family History and Lynch Syndrome Genes for Predicting Colorectal Cancer Risk.JCO precision oncology · 2025Article
Corrections and comments
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Authors and funding
33 authors at 20 institutions in 12 countries.
Funding
Abstract
purposeThe Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel (VCEP) was established by the International Society for Gastrointestinal Hereditary Tumours and the Clinical Genome Resource, who set out to develop recommendations for the interpretation of germline APC variants underlying Familial Adenomatous Polyposis, the most frequent hereditary polyposis syndrome.
methodsThrough a rigorous process of database analysis, literature review, and expert elicitation, the APC VCEP derived gene-specific modifications to the ACMG/AMP (American College of Medical Genetics and Genomics and Association for Molecular Pathology) variant classification guidelines and validated such criteria through the pilot classification of 58 variants.
resultsThe APC-specific criteria represented gene- and disease-informed specifications, including a quantitative approach to allele frequency thresholds, a stepwise decision tool for truncating variants, and semiquantitative evaluations of experimental and clinical data. Using the APC-specific criteria, 47% (27/58) of pilot variants were reclassified including 14 previous variants of uncertain significance (VUS).
conclusionThe APC-specific ACMG/AMP criteria preserved the classification of well-characterized variants on ClinVar while substantially reducing the number of VUS by 56% (14/25). Moving forward, the APC VCEP will continue to interpret prioritized lists of VUS, the results of which will represent the most authoritative variant classification for widespread clinical use.
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