ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.
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Who cites it
47 citing papers in PubMed, 2 syntheses or guidelines pooled it, 97 citations in OpenAlex.
- Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology.The Journal of molecular diagnostics : JMD · 2017Guideline
- Molecular Biomarkers for the Evaluation of Colorectal Cancer.American journal of clinical pathology · 2017Guideline
- Molecular profiling of advanced solid tumors and patient outcomes with genotype-matched clinical trials: the Princess Margaret IMPACT/COMPACT trial.Genome medicine · 2016Trial
- Survey of diagnostic laboratories highlights need for improved standards in somatic genomic testing and reporting.European journal of human genetics : EJHG · 2026Article
- Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.The Journal of allergy and clinical immunology · 2026Article
- 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
- Molecular Classification of Endometrial Cancers Using an Integrative DNA Sequencing Panel.Journal of surgical oncology · 2025Article
- Repeat Next-Generation Sequencing (15-Gene Panel) in Unifocal, Synchronous, and Metachronous Non-Small-Cell Lung Cancer-A Single-Center Experience.Current oncology (Toronto, Ont.) · 2024Article
- Article
- Actionability classification of variants of unknown significance correlates with functional effect.NPJ precision oncology · 2023Article
- Review
- Genome interpretation using in silico predictors of variant impact.Human genetics · 2022Review
- Comprehensive analysis of T cell receptor repertoire in patients withTranslational lung cancer research · 2022Article
- Practice guidelines forJournal of medical genetics · 2022Review
- Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer.Current oncology (Toronto, Ont.) · 2022Article
- Delivering precision oncology to patients with cancer.Nature medicine · 2022Review
- Article
- Divergent leukaemia subclones as cellular models for testing vulnerabilities associated with gains in chromosomes 7, 8 or 18.Scientific reports · 2021Article
- Molecular Pathology of Breast Tumors: Diagnostic and Actionable Genetic Alterations.Surgical pathology clinics · 2021Review
- The Utility of Next-Generation Sequencing in the Treatment Decision-Making for Metastatic Non-Small-Cell Lung Cancer.Cureus · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeInterpretation systems for clinical laboratory reporting of genetic variants for inherited conditions have been widely published. By contrast, there are no existing systems for interpretation and classification of somatic variants found from molecular testing of cancer.
methodsWe designed an assessment protocol and classification system for somatic variants identified through next-generation sequencing molecular profiling of tumor-derived samples and applied these to a pilot dataset of somatic variants found by next-generation sequencing profiling of 158 tumor samples derived from advanced cancer patients examined at the Princess Margaret Cancer Centre.
resultsWe present a classification system to interpret the significance of genetic variants in molecular analysis of cancer, including the following key factors: (i) known or predicted pathogenicity of the variant; (ii) primary site and tumor histology in which the variant is found; (iii) recurrence of the variant; and (iv) evidence of clinical actionability. We used these factors to develop a five-category somatic variant classification for simplified reporting of variant interpretations to treating oncologists.
conclusionOur somatic variant classification can be of practical value to other clinical molecular laboratories performing cancer genetic profiling by promoting consistent reporting of somatic variants and permitting harmonization of variant data among laboratories and clinical studies.
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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.