ArticleCancer research2011
Replication and functional genomic analyses of the breast cancer susceptibility locus at 6q25.1 generalize its importance in women of chinese, Japanese, and European ancestry.
Article in Cancer research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 7 of them syntheses that pooled it.
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Who cites it
57 citing papers in PubMed, 7 syntheses or guidelines pooled it, 76 citations in OpenAlex.
- Association between CASC16 rs4784227 polymorphism and breast cancer susceptibility: A meta-analysis.Medicine · 2021Pooled it
- The 6q25.1 rs2046210 polymorphism is associated with an elevated susceptibility to breast cancer: A meta-analysis of 261,703 subjects.Molecular genetics & genomic medicine · 2019Pooled it
- Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.Nature communications · 2017Pooled it
- Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.Nature genetics · 2016Pooled it
- Single nucleotide polymorphism 6q25.1 rs2046210 and increased risk of breast cancer.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2013Pooled it
- Quantitative assessment of the association between rs2046210 at 6q25.1 and breast cancer risk.PloS one · 2013Pooled it
- Pooled it
- Breast Cancer-Protective Genetic Variant Common in Women of Indigenous American Genetic Ancestry Is a cis-eQTL for RMND1, ARMT1, and CCDC170 in HER2-Enriched Tumor Subtypes.Cancer research communications · 2026Article
- WDCN: a comprehensive neural network based approach for estimating breast cancer risk.Briefings in bioinformatics · 2026Article
- Cis-regulatory and long noncoding RNA alterations in breast cancer - current insights, biomarker utility, and the critical need for functional validation.Molecular oncology · 2026Review
- Investigating the mechanistic link between pesticide DDT and breast cancer through network toxicology, molecular docking, and molecular dynamics simulation.Scientific reports · 2026Article
- A novel PTEN mutant caused by polymorphism in cis-regulatory elements is involved in chemosensitivity in breast cancer.American journal of cancer research · 2023Article
- Association between Ancestry-Specific 6q25 Variants and Breast Cancer Subtypes in Peruvian Women.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- Computational estimation of quality and clinical relevance of cancer cell lines.Molecular systems biology · 2022Review
- Sequencing of Chromosomal Locus 6q25.1 Revealed Two Significant SNPs rs2046210 and rs2046211 Associated with Breast Cancer: A Case-Control Study in Egyptian Women.Asian Pacific journal of cancer prevention : APJCP · 2022Article
- Genetic risk factors for endometriosis near estrogen receptor 1 and coexpression of genes in this region in endometrium.Molecular human reproduction · 2021Article
- Supervariants identification for breast cancer.Genetic epidemiology · 2020Article
- An Interactive Resource to Probe Genetic Diversity and Estimated Ancestry in Cancer Cell Lines.Cancer research · 2019Review
- Novel susceptibility variants at theBlood · 2019Article
- Identification of novel common breast cancer risk variants at the 6q25 locus among Latinas.Breast cancer research : BCR · 2019Article
Corrections and comments
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Authors and funding
47 authors at 6 institutions in 2 countries.
Funding
Abstract
We evaluated the generalizability of a single nucleotide polymorphism (SNP), rs2046210 (A/G allele), associated with breast cancer risk that was initially identified at 6q25.1 in a genome-wide association study conducted among Chinese women. In a pooled analysis of more than 31,000 women of East-Asian, European, and African ancestry, we found a positive association for rs2046210 and breast cancer risk in Chinese women [ORs (95% CI) = 1.30 (1.22-1.38) and 1.64 (1.50-1.80) for the AG and AA genotypes, respectively, P for trend = 1.54 × 10⁻³⁰], Japanese women [ORs (95% CI) = 1.31 (1.13-1.52) and 1.37 (1.06-1.76), P for trend = 2.51 × 10⁻⁴], and European-ancestry American women [ORs (95% CI) = 1.07 (0.99-1.16) and 1.18 (1.04-1.34), P for trend = 0.0069]. No association with this SNP, however, was observed in African American women [ORs (95% CI) = 0.81 (0.63-1.06) and 0.85 (0.65-1.11) for the AG and AA genotypes, respectively, P for trend = 0.4027]. In vitro functional genomic studies identified a putative functional variant, rs6913578. This SNP is 1,440 bp downstream of rs2046210 and is in high linkage disequilibrium with rs2046210 in Chinese (r(2) = 0.91) and European-ancestry (r² = 0.83) populations, but not in Africans (r² = 0.57). SNP rs6913578 was found to be associated with breast cancer risk in Chinese and European-ancestry American women. After adjusting for rs2046210, the association of rs6913578 with breast cancer risk in African Americans approached borderline significance. Results from this large consortium study confirmed the association of rs2046210 with breast cancer risk among women of Chinese, Japanese, and European ancestry. This association may be explained in part by a putatively functional variant (rs6913578) identified in the region.
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