ArticleCarcinogenesis2014
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
Article in Carcinogenesis, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 100 papers, 6 of them syntheses that pooled it.
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Who cites it
100 citing papers in PubMed, 6 syntheses or guidelines pooled it, 160 citations in OpenAlex.
- Clinical and prognostic significance of parathyroid hormone-related protein in breast cancer: a systematic review and meta-analyses of observational studies in women.Endocrine-related cancer · 2026Pooled it
- Association of telomerase reverse transcriptase gene rs10069690 variant with cancer risk: an updated meta-analysis.BMC cancer · 2024Pooled it
- Variants in the 8q24 region associated with risk of breast cancer: Systematic research synopsis and meta-analysis.Medicine · 2020Pooled it
- TERT rs10069690 polymorphism and cancers risk: A meta-analysis.Molecular genetics & genomic medicine · 2019Pooled it
- Cis-eQTL-based trans-ethnic meta-analysis reveals novel genes associated with breast cancer risk.PLoS genetics · 2017Pooled it
- The associations between MDM4 gene polymorphisms and cancer risk.Oncotarget · 2016Pooled it
- Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci.Human molecular genetics · 2016Trial
- Integrative Molecular Profiling of miR-548f-3p in Triple-Negative Breast Cancer HighlightsInternational journal of molecular sciences · 2026Article
- WDCN: a comprehensive neural network based approach for estimating breast cancer risk.Briefings in bioinformatics · 2026Article
- Lgr6Genes & diseases · 2026Review
- Identification and functional validation of EPS15L1 as a key driver of triple-negative breast cancer.NPJ breast cancer · 2026Article
- Exploring the Relationship Between MDM4 Gene Polymorphisms (rs1380576 and rs4245739) and Breast Cancer Susceptibility in Bangladesh: A Case-Control Study.Journal of clinical laboratory analysis · 2026Article
- DUSP1: Triple-Negative Breast Cancer and Therapeutic Potential.Current oncology (Toronto, Ont.) · 2026Review
- rs2357322 and rs17726078 Contribute to Breast Cancer Risk by Regulating DLX2 Expression.The breast journal · 2026Article
- Multiplex imaging reveals novel patterns of MRTFA/B activation in the breast cancer microenvironment.Journal of translational medicine · 2025Article
- Advances in Research on the B-Lineage Transcription Factor EBF1 in Solid Tumors.International journal of molecular sciences · 2025Review
- Loss of ADAM29 does not affect viability and fertility in mice but improves wound healing.iScience · 2024Article
- A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for breast cancer.American journal of human genetics · 2024Article
- rs2736098, a synonymous polymorphism, is associated with carcinogenesis and cell count in multiple tissue types by regulatingHeliyon · 2024Article
- Multiplex Imaging Reveals Novel Subcellular, Microenvironmental, and Racial Patterns of MRTFA/B Activation in Invasive Breast Cancers and Metastases.bioRxiv : the preprint server for biology · 2024Article
40 more citing papers are in PubMed but not listed here.
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Authors and funding
109 authors at 20 institutions in 11 countries.
Funding
Abstract
Triple-negative (TN) breast cancer is an aggressive subtype of breast cancer associated with a unique set of epidemiologic and genetic risk factors. We conducted a two-stage genome-wide association study of TN breast cancer (stage 1: 1529 TN cases, 3399 controls; stage 2: 2148 cases, 1309 controls) to identify loci that influence TN breast cancer risk. Variants in the 19p13.1 and PTHLH loci showed genome-wide significant associations (P < 5 × 10(-) (8)) in stage 1 and 2 combined. Results also suggested a substantial enrichment of significantly associated variants among the single nucleotide polymorphisms (SNPs) analyzed in stage 2. Variants from 25 of 74 known breast cancer susceptibility loci were also associated with risk of TN breast cancer (P < 0.05). Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT-rs10069690, ESR1, TOX3, 19p13.1, RALY), and we identified associations with TN breast cancer for 15 additional breast cancer loci (P < 0.05: PEX14, 2q24.1, 2q31.1, ADAM29, EBF1, TCF7L2, 11q13.1, 11q24.3, 12p13.1, PTHLH, NTN4, 12q24, BRCA2, RAD51L1-rs2588809, MKL1). Further, two SNPs independent of previously reported signals in ESR1 [rs12525163 odds ratio (OR) = 1.15, P = 4.9 × 10(-) (4)] and 19p13.1 (rs1864112 OR = 0.84, P = 1.8 × 10(-) (9)) were associated with TN breast cancer. A polygenic risk score (PRS) for TN breast cancer based on known breast cancer risk variants showed a 4-fold difference in risk between the highest and lowest PRS quintiles (OR = 4.03, 95% confidence interval 3.46-4.70, P = 4.8 × 10(-) (69)). This translates to an absolute risk for TN breast cancer ranging from 0.8% to 3.4%, suggesting that genetic variation may be used for TN breast cancer risk prediction.
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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.