RGD Reference Report - Polymorphisms in the promoter region of ESR2 gene and breast cancer susceptibility. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Polymorphisms in the promoter region of ESR2 gene and breast cancer susceptibility.

Authors: Treeck, O  Elemenler, E  Kriener, C  Horn, F  Springwald, A  Hartmann, A  Ortmann, O 
Citation: Treeck O, etal., J Steroid Biochem Mol Biol. 2009 Apr;114(3-5):207-11. doi: 10.1016/j.jsbmb.2009.02.012. Epub 2009 Mar 3.
RGD ID: 8693347
Pubmed: PMID:19429453   (View Abstract at PubMed)
DOI: DOI:10.1016/j.jsbmb.2009.02.012   (Journal Full-text)

Genetic variations like single nucleotide polymorphisms (SNPs) in genes involved in estrogen biosynthesis, metabolism and signal transduction have been suggested to affect breast cancer susceptibility. In this study we tested the hypothesis that polymorphisms in the promoter of ESR2 gene may be associated with increased risk for breast cancer. We analyzed three SNPs in the promoter region of human ESR2 gene by means of allele-specific tetra-primer PCR. A total of 318 sporadic breast cancer cases and 318 age-matched controls were included in the study. With regard to homozygous genotypes, women with sporadic breast cancer more frequently carried the CC genotype of ESR2 promoter SNP rs2987983 (OR 1.99, p=0.005). Calculation of allele positivity demonstrated that presence of T allele of this SNP was more frequent in healthy women. Our data suggest that a SNP in the promoter region of ESR2 gene might be able to affect breast cancer risk. These results further support the emerging hypothesis that ERbeta is an important factor in breast cancer development.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ESR2Humanbreast cancer susceptibilityIAGP DNA:snp:promoter:g.-13950C>T (rs2987983) (human)RGD 
Esr2Ratbreast cancer susceptibilityISOESR2 (Homo sapiens)DNA:snp:promoter:g.-13950C>T (rs2987983) (human)RGD 
Esr2Mousebreast cancer susceptibilityISOESR2 (Homo sapiens)DNA:snp:promoter:g.-13950C>T (rs2987983) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Esr2  (estrogen receptor 2)

Genes (Mus musculus)
Esr2  (estrogen receptor 2 (beta))

Genes (Homo sapiens)
ESR2  (estrogen receptor 2)


Additional Information