ArticleJournal of the National Cancer Institute2013
A common deletion in the APOBEC3 genes and breast cancer risk.
Article in Journal of the National Cancer Institute, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 2 of them syntheses that pooled it.
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Who cites it
99 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants.Nature communications · 2020Pooled it
- Pooled it
- Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci.Human molecular genetics · 2016Trial
- R-loop editing by DNA cytosine deaminase APOBEC3B modulates the activity of oestrogen receptor enhancers.Nature communications · 2026Article
- Whole-genome landscapes of 1,364 breast cancers.Nature · 2026Article
- Pembrolizumab monotherapy for previously treated metastatic HER2-negative breast cancer with germlineThe Lancet regional health. Western Pacific · 2025Article
- APOBEC3 Proteins: From Antiviral Immunity to Oncogenic Drivers in HPV-Positive Cancers.Viruses · 2025Review
- Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction.Nature genetics · 2024Article
- Article
- Viral infection, APOBEC3 dysregulation, and cancer.Frontiers in genetics · 2024Review
- TheGenes · 2023Article
- Polygenic risk scores for prediction of breast cancer in Korean women.International journal of epidemiology · 2023Article
- DNA cytosine deamination is associated with recurrent Somatic Copy Number Alterations in stomach adenocarcinoma.Frontiers in genetics · 2023Article
- Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.Journal of the National Cancer Institute · 2022Article
- Addressing the benefits of inhibiting APOBEC3-dependent mutagenesis in cancer.Nature genetics · 2022Review
- Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.Communications biology · 2022Article
- APOBEC3: Friend or Foe in Human Papillomavirus Infection and Oncogenesis?Annual review of virology · 2022Review
- Genome-wide detection of copy number variation in American mink using whole-genome sequencing.BMC genomics · 2022Article
- Revisiting the MMTV Zoonotic Hypothesis to Account for Geographic Variation in Breast Cancer Incidence.Viruses · 2022Article
- Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Breast Cancer Risk Prediction Among Asian Women.JAMA network open · 2022Article
39 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
backgroundGenome-wide association studies (GWASs) have identified multiple genetic susceptibility loci for breast cancer. However, these loci explain only a small fraction of the heritability. Very few studies have evaluated copy number variation (CNV), another important source of human genetic variation, in relation to breast cancer risk.
methodsWe conducted a CNV GWAS in 2623 breast cancer patients and 1946 control subjects using data from Affymetrix SNP Array 6.0 (stage 1). We then replicated the most promising CNV using real-time quantitative polymerase chain reaction (qPCR) in an independent set of 4254 case patients and 4387 control subjects (stage 2). All subjects were recruited from population-based studies conducted among Chinese women in Shanghai.
resultsOf the 268 common CNVs (minor allele frequency ≥ 5%) investigated in stage 1, the strongest association was found for a common deletion in the APOBEC3 genes (P = 1.1×10(-4)) and was replicated in stage 2 (odds ratio =1.35, 95% confidence interval [CI] = 1.27 to 1.44; P = 9.6×10(-22)). Analyses of all samples from both stages using qPCR data produced odds ratios of 1.31 (95% CI = 1.21 to 1.42) for a one-copy deletion and 1.76 (95% CI = 1.57 to 1.97) for a two-copy deletion (P = 2.0×10(-24)).
conclusionsWe provide convincing evidence for a novel breast cancer locus at the APOBEC3 genes. This CNV is one of the strongest common genetic risk variants identified so far for breast cancer.
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