ArticleCancers2019
Standardization of Somatic Variant Classifications in Solid and Haematological Tumours by a Two-Level Approach of Biological and Clinical Classes: An Initiative of the Belgian ComPerMed Expert Panel.
Article in Cancers, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23 citing papers in PubMed, 49 citations in OpenAlex.
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- 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
- BRCA Mutation Testing in Men With Metastatic Castration-Resistant Prostate Cancer: Practical Guidance for Australian Clinical Practice.Asia-Pacific journal of clinical oncology · 2025Review
- Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.Molecular oncology · 2025Article
- Analysis of comprehensive genomic profiling of solid tumors with a novel assay for broad analysis in clinical diagnostics.Molecular oncology · 2025Article
- A nationwide comprehensive genomic profiling and molecular tumor board platform for patients with advanced cancer.NPJ precision oncology · 2025Article
- Duodenal Fluid Analysis as a Rewarding Approach to Detect Low-Abundance Mutations in Biliopancreatic Cancers.International journal of molecular sciences · 2024Article
- The Advantage of Targeted Next-Generation Sequencing over qPCR in Testing for DruggableInternational journal of molecular sciences · 2024Article
- ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-2024 update.Leukemia · 2024Review
- Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.Orphanet journal of rare diseases · 2024Article
- Biomarker testing in lung cancer: from bench to bedside.Oncology reviews · 2024Review
- Validation and refinement of the 2022 European LeukemiaNet genetic risk stratification of acute myeloid leukemia.Leukemia · 2023Article
- Understanding cancer predisposition in Singapore: What's next.Singapore medical journal · 2023Review
- Liquid Biopsy-Derived DNA Sources as Tools for Comprehensive Mutation Profiling in Multiple Myeloma: A Comparative Study.Cancers · 2022Article
- Diagnostic Validation of a Comprehensive Targeted Panel for Broad Mutational and Biomarker Analysis in Solid Tumors.Cancers · 2022Article
- Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics.BMC medical genomics · 2022Article
- Article
- Combinatory analysis of immune cell subsets and tumor-specific genetic variants predict clinical response to PD-1 blockade in patients with non-small cell lung cancer.Frontiers in oncology · 2022Article
- Genetic profiling of human bone marrow mesenchymal stromal cells afterFrontiers in bioengineering and biotechnology · 2022Article
- Evaluation of a Targeted Next-Generation Sequencing Panel for the Non-Invasive Detection of Variants in Circulating DNA of Colorectal Cancer.Journal of clinical medicine · 2021Article
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Authors and funding
13 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In most diagnostic laboratories, targeted next-generation sequencing (NGS) is currently the default assay for the detection of somatic variants in solid as well as haematological tumours. Independent of the method, the final outcome is a list of variants that differ from the human genome reference sequence of which some may relate to the establishment of the tumour in the patient. A critical point towards a uniform patient management is the assignment of the biological contribution of each variant to the malignancy and its subsequent clinical impact in a specific malignancy. These so-called biological and clinical classifications of somatic variants are currently not standardized and are vastly dependent on the subjective analysis of each laboratory. This subjectivity can thus result in a different classification and subsequent clinical interpretation of the same variant. Therefore, the ComPerMed panel of Belgian experts in cancer diagnostics set up a working group with the goal to harmonize the biological classification and clinical interpretation of somatic variants detected by NGS. This effort resulted in the establishment of a uniform, two-level classification workflow system that should enable high consistency in diagnosis, prognosis, treatment and follow-up of cancer patients. Variants are first classified into a tumour-independent biological five class system and subsequently in a four tier ACMG clinical classification. Here, we describe the ComPerMed workflow in detail including examples for each step of the pipeline. Moreover, this workflow can be implemented in variant classification software tools enabling automatic reporting of NGS data, independent of panel, method or analysis software.
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