ArticleJournal of the National Cancer Institute2020
Genetically Predicted Levels of DNA Methylation Biomarkers and Breast Cancer Risk: Data From 228 951 Women of European Descent.
Article in Journal of the National Cancer Institute, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 3 of them syntheses 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
39 citing papers in PubMed, 3 syntheses or guidelines pooled it, 60 citations in OpenAlex.
- Pooled it
- Methylation-based markers of aging and lifestyle-related factors and risk of breast cancer: a pooled analysis of four prospective studies.Breast cancer research : BCR · 2022Pooled it
- Pooled it
- Triple-Negative Breast Cancer: Molecular Subtypes; Immune Escape; Limitations of Current Immunotherapy; and the BTLA/HVEM/CD160 Axis as an Emerging Target.Current issues in molecular biology · 2026Review
- Artificial intelligence-powered liquid biopsy in cancer: a paradigm shift in cancer detection and personalized care.Cancer cell international · 2026Review
- DNA methylation signatures of cervical pre-invasive and invasive disease: An epigenome-wide association study.International journal of cancer · 2025Article
- DNA methylation in breast cancer: early detection and biomarker discovery through current and emerging approaches.Journal of translational medicine · 2025Review
- Identification of proteins associated with type 2 diabetes risk in diverse racial and ethnic populations.Diabetologia · 2024Article
- A proteome-wide association study identifies putative causal proteins for breast cancer risk.British journal of cancer · 2024Article
- Pre-diagnosis blood DNA methylation profiling of twin pairs discordant for breast cancer points to the importance of environmental risk factors.Clinical epigenetics · 2024Article
- Review
- Integrating muti-omics data to identify tissue-specific DNA methylation biomarkers for cancer risk.Nature communications · 2024Article
- Methylation marks in blood DNA reveal breast cancer risk in patients fulfilling hereditary disease criteria.NPJ precision oncology · 2024Article
- Cancer-specific risk prediction with a serum microRNA signature.Cancer science · 2024Article
- Machine learning unveils an immune-related DNA methylation profile in germline DNA from breast cancer patients.Clinical epigenetics · 2024Article
- Article
- Identification of blood metabolites associated with risk of Alzheimer's disease by integrating genomics and metabolomics data.Molecular psychiatry · 2024Article
- Associations between genetically predicted plasma protein levels and Alzheimer's disease risk: a study using genetic prediction models.Alzheimer's research & therapy · 2024Article
- The emerging roles of LINC00511 in breast cancer development and therapy.Frontiers in oncology · 2024Review
- Identification of candidate DNA methylation biomarkers related to Alzheimer's disease risk by integrating genome and blood methylome data.Translational psychiatry · 2023Article
Corrections and comments
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Authors and funding
31 authors at 17 institutions in 9 countries.
Funding
Abstract
backgroundDNA methylation plays a critical role in breast cancer development. Previous studies have identified DNA methylation marks in white blood cells as promising biomarkers for breast cancer. However, these studies were limited by low statistical power and potential biases. Using a new methodology, we investigated DNA methylation marks for their associations with breast cancer risk.
methodsStatistical models were built to predict levels of DNA methylation marks using genetic data and DNA methylation data from HumanMethylation450 BeadChip from the Framingham Heart Study (n = 1595). The prediction models were validated using data from the Women's Health Initiative (n = 883). We applied these models to genomewide association study (GWAS) data of 122 977 breast cancer patients and 105 974 controls to evaluate if the genetically predicted DNA methylation levels at CpG sites (CpGs) are associated with breast cancer risk. All statistical tests were two-sided.
resultsOf the 62 938 CpG sites CpGs investigated, statistically significant associations with breast cancer risk were observed for 450 CpGs at a Bonferroni-corrected threshold of P less than 7.94 × 10-7, including 45 CpGs residing in 18 genomic regions, that have not previously been associated with breast cancer risk. Of the remaining 405 CpGs located within 500 kilobase flaking regions of 70 GWAS-identified breast cancer risk variants, the associations for 11 CpGs were independent of GWAS-identified variants. Integrative analyses of genetic, DNA methylation, and gene expression data found that 38 CpGs may affect breast cancer risk through regulating expression of 21 genes.
conclusionOur new methodology can identify novel DNA methylation biomarkers for breast cancer risk and can be applied to other diseases.
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Registered trials
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