ArticleScientific reports2017
Germline copy number variations are associated with breast cancer risk and prognosis.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it.
- BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.Journal of ovarian research · 2020Pooled it
- CN-RNN: a Deep Learning Framework for Copy Number Variation Detection with Exome Sequencing Data.bioRxiv : the preprint server for biology · 2026Article
- Observational
- Integrative Network-Based Transcriptomic Analysis Identifies Niclosamide as a Candidate Repositioned Drug for Breast Cancer.Breast cancer (Dove Medical Press) · 2026Article
- Metagenomic next-generation sequencing and chromosomal copy number variation analysis in cerebrospinal fluid for the detection of meningeal carcinomatosis.Journal of neuro-oncology · 2025Article
- Comprehensive functional annotation of ESR1-driven enhancers in breast cancer reveals hierarchical activity independent of genomic and epigenomic contexts.Genome research · 2025Article
- HapCNV: A Comprehensive Framework for CNV Detection in Low-input DNA Sequencing Data.bioRxiv : the preprint server for biology · 2025Article
- Comprehensive breast cancer risk analysis with whole exome sequencing and the prevalence ofBiomedical reports · 2024Article
- Review
- Utility of metagenomic Next-Generation Sequencing for simultaneously detecting pathogens and neoplasms.Heliyon · 2024Article
- The Role of GAB1 in Cancer.Cancers · 2023Review
- Systematic assessment of the contribution of structural variants to inherited retinal diseases.Human molecular genetics · 2023Article
- Utility of clinical metagenomics in diagnosing malignancies in a cohort of patients with Epstein-Barr virus positivity.Frontiers in cellular and infection microbiology · 2023Article
- An effect of large-scale deletions and duplications on transcript expression.Functional & integrative genomics · 2022Article
- Mechanisms behind context-dependent role of glucocorticoids in breast cancer progression.Cancer metastasis reviews · 2022Review
- Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.Journal of the National Cancer Institute · 2022Article
- Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.Communications biology · 2022Article
- Polishing copy number variant calls on exome sequencing data via deep learning.Genome research · 2022Article
- Integration of DNA Microarray with Clinical and Genomic Data.Methods in molecular biology (Clifton, N.J.) · 2022Article
- A Three-mRNA Signature Associated with Pyrimidine Metabolism for Prognosis of BRCA.BioMed research international · 2022Article
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Breast cancer is one of the most common cancers among women, and susceptibility is explained by genetic, lifestyle and environmental components. Copy Number Variants (CNVs) are structural DNA variations that contribute to diverse phenotypes via gene-dosage effects or cis-regulation. In this study, we aimed to identify germline CNVs associated with breast cancer susceptibility and their relevance to prognosis. We performed whole genome CNV genotyping in 422 cases and 348 controls using Human Affymetrix SNP 6 array. Principal component analysis for population stratification revealed 84 outliers leaving 366 cases and 320 controls of Caucasian ancestry for association analysis; CNVs with frequency > 10% and overlapping with protein coding genes were considered for breast cancer risk and prognostic relevance. Coding genes within the CNVs identified were interrogated for gene- dosage effects by correlating copy number status with gene expression profiles in breast tumor tissue. We identified 200 CNVs associated with breast cancer (q-value < 0.05). Of these, 21 CNV regions (overlapping with 22 genes) also showed association with prognosis. We validated representative CNVs overlapping with APOBEC3B and GSTM1 genes using the TaqMan assay. Germline CNVs conferred dosage effects on gene expression in breast tissue. The candidate CNVs identified in this study warrant independent replication.
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