ArticleGenome medicine2009
Copy number variations and cancer.
Article in Genome medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 205 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
205 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Copy number of 8q24.3 drives HSF1 expression and patient outcome in cancer: an individual patient data meta-analysis.Human genomics · 2019Pooled it
- Benchmarking copy number alteration inference methods for spatial transcriptomics.Nature communications · 2026Article
- Integrating molecular subtypes, genomics and functional dependencies to identify context-specific therapeutic vulnerabilities in small cell lung cancer.Biomarker research · 2026Review
- nf-core/pacsomatic: a scalable somatic analytic pipeline using PacBio HiFi data.Bioinformatics (Oxford, England) · 2026Article
- Integrating RNA-seq and Single-Cell RNA-seq to Uncover Transcriptional Signature of Fibroblasts in Oral Squamous Cell Carcinoma.Biochemical genetics · 2026Article
- The landscape of structural variation in pediatric cancer.Cancer cell · 2026Article
- Seesaw signatures capture trajectory-like transcriptomic shifts and enable compact tumour cell classification across cancers.Communications biology · 2026Article
- Spatial-aware detection of copy number alterations from spatial transcriptomics using SpaCNA.Nature communications · 2026Article
- Integrative Multi-Omics Analysis Identifies NUP205 as a Candidate Prognostic Biomarker in Liver Hepatocellular Carcinoma.International journal of molecular sciences · 2026Article
- Comparison of the Efficacy of 35 Anticancer Drugs According to Genomic Profiling and Biological Characteristics of 14 Gastric Cancer Cell Lines.International journal of molecular sciences · 2026Article
- BayesCNV: A Bayesian Hierarchical Model for Sensitive and Specific Copy Number Estimation in Cell Free DNA.Diagnostics (Basel, Switzerland) · 2026Article
- MARM: a framework for malignancy risk prediction from host-derived CNV in bronchoalveolar lavage fluid mNGS data with microbial admixture.Frontiers in microbiology · 2026Article
- Review
- Article
- Single-cell integration analysis reveals molecular signatures of the tumor microenvironment in early-onset colorectal cancer.NPJ precision oncology · 2025Article
- Dissecting Melanoma Ecosystem Heterogeneity from Molecular Characteristics to Genetic Variation at Single-Cell Resolution.International journal of molecular sciences · 2025Article
- POFUT1 as a cancer biomarker: insights into its oncogenic mechanisms and clinical relevance.Journal of molecular medicine (Berlin, Germany) · 2025Review
- Aging-Related Mechanisms Underlying Carcinogenesis: Therapeutic Opportunities.Aging and disease · 2025Review
- CCNV: a user-friendly R package enabling large-scale cumulative copy number variation analyses of DNA methylation data.BMC bioinformatics · 2025Article
- Article
145 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DNA copy number variations (CNVs) are an important component of genetic variation, affecting a greater fraction of the genome than single nucleotide polymorphisms (SNPs). The advent of high-resolution SNP arrays has made it possible to identify CNVs. Characterization of widespread constitutional (germline) CNVs has provided insight into their role in susceptibility to a wide spectrum of diseases, and somatic CNVs can be used to identify regions of the genome involved in disease phenotypes. The role of CNVs as risk factors for cancer is currently underappreciated. However, the genomic instability and structural dynamism that characterize cancer cells would seem to make this form of genetic variation particularly intriguing to study in cancer. Here, we provide a detailed overview of the current understanding of the CNVs that arise in the human genome and explore the emerging literature that reveals associations of both constitutional and somatic CNVs with a wide variety of human cancers.
Identifiers
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Registered trials
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.