ArticleCarcinogenesis2016
Evaluation of potential regulatory function of breast cancer risk locus at 6q25.1.
Article in Carcinogenesis, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 19 citations in OpenAlex.
- 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
- Integrative multi-omic analysis identifies key transcription factors and target proteins in renal cell carcinoma and its subtypes.bioRxiv : the preprint server for biology · 2025Article
- Integrating transcription factor occupancy with transcriptome-wide association analysis identifies susceptibility genes in human cancers.Nature communications · 2022Article
- 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
- The prognostic and predictive value of ESR1 fusion gene transcripts in primary breast cancer.BMC cancer · 2022Article
- Genetic variations of DNA bindings of FOXA1 and co-factors in breast cancer susceptibility.Nature communications · 2021Article
- Review
- Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.Biomolecules · 2020Article
- A Possible Link of Genetic Variations in ER/IGF1R Pathway and Risk of Melanoma.International journal of molecular sciences · 2020Article
- A Comprehensive cis-eQTL Analysis Revealed Target Genes in Breast Cancer Susceptibility Loci Identified in Genome-wide Association Studies.American journal of human genetics · 2018Article
- Polymorphisms/Mutations in A-Kinase Anchoring Proteins (AKAPs): Role in the Cardiovascular System.Journal of cardiovascular development and disease · 2018Review
- Elucidating the Underlying Functional Mechanisms of Breast Cancer Susceptibility Through Post-GWAS Analyses.Frontiers in genetics · 2018Review
- Association of three single nucleotide polymorphisms of ESR1with breast cancer susceptibility: a meta-analysis.Journal of biomedical research · 2017Article
- Previous GWAS hits in relation to young-onset breast cancer.Breast cancer research and treatment · 2017Article
- Physiologic and pathophysiologic roles of AKAP12.Science progressArticle
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
In a genome-wide association study conducted among Chinese women, we identified the single nucleotide polymorphism (SNP) rs2046210 at 6q25.1 for breast cancer risk. To explore a potential regulatory role for this risk locus, we measured expression levels of nine genes at the locus in breast cancer tissue and adjacent normal tissue samples obtained from 67 patients recruited in the Shanghai Breast Cancer Study. We found that rs2046210 had a statistically significant association with the expression levels of the AKAP12 and ESR1 genes in adjacent normal breast tissues. Women who carry the AA/AG risk genotypes had higher expressions of these two genes compared to those who carry G/G genotypes (P = 0.02 and 0.04 for the AKAP12 and ESR1, respectively). However, no significant differences of SNP rs2046210 with gene expression levels were found in tumor tissues. In The Cancer Genome Atlas samples, the AA/AG risk genotypes of SNP rs2046210 were associated with a significantly higher expression level of the AKAP12 gene and a lower level of the ESR1 gene in tumor tissue. Functional analysis using ENCODE data revealed that SNP rs7763637, which is in strong linkage disequilibrium with SNP rs2046210, is likely a potential functional variant, regulating the AKAP12 gene. Taken together, these results from our study suggest that the association between the 6q25.1 locus and breast cancer risk may be mediated through SNPs that regulate expressions of the AKAP12 gene.
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