ArticleEuropean journal of human genetics : EJHG2017
Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 21 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed, 39 citations in OpenAlex.
- Review
- Novel role of general transcript factor IIH subunit 2 (GTF2H2) in the development and sex disparity of hepatocellular carcinoma.Oncogene · 2025Article
- Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants.Hereditary cancer in clinical practice · 2025Review
- Review
- Associating CYP2A6 structural variants with ovarian and lung cancer risk in the UK Biobank: replication and extension.European journal of human genetics : EJHG · 2024Article
- Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data.Journal of human genetics · 2023Article
- Characterization of large-scale genomic differences in the first complete human genome.Genome biology · 2023Article
- Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.Communications biology · 2022Article
- RNA Sequencing of Tumor-Educated Platelets Reveals a Three-Gene Diagnostic Signature in Esophageal Squamous Cell Carcinoma.Frontiers in oncology · 2022Article
- Human Orphan Cytochromes P450: An Update.Current drug metabolism · 2022Article
- Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine.Non-coding RNA · 2021Review
- Gene Signatures and Prognostic Values of N6-Methyladenosine Related Genes in Ovarian Cancer.Frontiers in genetics · 2021Article
- Downregulated mRNA Expression of ZNF385B Is an Independent Predictor of Breast Cancer.International journal of genomics · 2021Article
- Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).BMC cancer · 2020Article
- Molecular karyotyping and gene expression analysis in childhood cancer patients.Journal of molecular medicine (Berlin, Germany) · 2020Article
- A 17-gene expression-based prognostic signature associated with the prognosis of patients with breast cancer: A STROBE-compliant study.Medicine · 2020Observational
- Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2019Article
- Integrated multi-omics analysis of genomics, epigenomics, and transcriptomics in ovarian carcinoma.Aging · 2019Article
- Validating a breast cancer score in Spanish women. The MCC-Spain study.Scientific reports · 2018Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
39 authors at 15 institutions in 11 countries.
Funding
Abstract
Genome-wide studies of patients carrying pathogenic variants (mutations) in BRCA1 or BRCA2 have reported strong associations between single-nucleotide polymorphisms (SNPs) and cancer risk. To conduct the first genome-wide association analysis of copy-number variants (CNVs) with breast or ovarian cancer risk in a cohort of 2500 BRCA1 pathogenic variant carriers, CNV discovery was performed using multiple calling algorithms and Illumina 610k SNP array data from a previously published genome-wide association study. Our analysis, which focused on functionally disruptive genomic deletions overlapping gene regions, identified a number of loci associated with risk of breast or ovarian cancer for BRCA1 pathogenic variant carriers. Despite only including putative deletions called by at least two or more algorithms, detection of selected CNVs by ancillary molecular technologies only confirmed 40% of predicted common (>1% allele frequency) variants. These include four loci that were associated (unadjusted P<0.05) with breast cancer (GTF2H2, ZNF385B, NAALADL2 and PSG5), and two loci associated with ovarian cancer (CYP2A7 and OR2A1). An interesting finding from this study was an association of a validated CNV deletion at the CYP2A7 locus (19q13.2) with decreased ovarian cancer risk (relative risk=0.50, P=0.007). Genomic analysis found this deletion coincides with a region displaying strong regulatory potential in ovarian tissue, but not in breast epithelial cells. This study highlighted the need to verify CNVs in vitro, but also provides evidence that experimentally validated CNVs (with plausible biological consequences) can modify risk of breast or ovarian cancer in BRCA1 pathogenic variant carriers.
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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.