RGD Reference Report - The R156R ERCC2 polymorphism as a risk factor of endometrial cancer. - 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   new 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

The R156R ERCC2 polymorphism as a risk factor of endometrial cancer.

Authors: Michalska, Magdalena M  Samulak, Dariusz  Jablonski, Filip  Romanowicz, Hanna  Smolarz, Beata 
Citation: Michalska MM, etal., Tumour Biol. 2016 Feb;37(2):2171-6. doi: 10.1007/s13277-015-4040-8. Epub 2015 Sep 9.
RGD ID: 12880439
Pubmed: PMID:26349749   (View Abstract at PubMed)
DOI: DOI:10.1007/s13277-015-4040-8   (Journal Full-text)

Endometrial carcinoma (EC) is the most frequent malignant neoplasm of female genitals and the fourth most frequent malignant neoplasm in Polish women, after breast, colorectal and lung cancer. Despite intensive research, EC aetiology remains unknown. The variability, perceived in DNA repair genes, may be of clinical importance for evaluation of the risk of occurrence of a given type of cancer, its prophylactics and therapy. The aim of the study was to determine the relationship between gene polymorphism R156R (C to A, rs238406) of ERCC2 gene and modulation of the risk of endometrial cancer in Poland. Our research included 1360 patients with EC and 1320 healthy controls. The genotype analysis of ERCC2 gene polymorphism was performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP). In the presented study, a relationship was identified between R156R polymorphism of the ERCC2 gene and the incidence of endometrial cancer. An association was observed between EC occurrence and the presence of A/A genotype (odds ratio (OR) 9.71, 95 % Cl 7.53-12.50, p¿<¿.0001). A tendency for an increased risk of endometrial cancer was detected with the occurrence of A allele of ERCC2 polymorphism (OR¿=¿5.95, 95 % Cl 5.23-6.78, p¿<¿.0001). A relationship was confirmed between R156R polymorphism and endometrial cancer progression, assessed by histological grades. On the basis of these results, we conclude that ERCC2 gene polymorphism R156R may be associated with an increased risk of endometrial cancer.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Endometrial Neoplasms susceptibilityIAGP 12880439DNA:polymorphism:exon:p.R156R(human)RGD 
Endometrial Neoplasms susceptibilityISOERCC2 (Homo sapiens)12880439; 12880439DNA:polymorphism:exon:p.R156R(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ercc2  (ERCC excision repair 2, TFIIH core complex helicase subunit)

Genes (Mus musculus)
Ercc2  (excision repair cross-complementing rodent repair deficiency, complementation group 2)

Genes (Homo sapiens)
ERCC2  (ERCC excision repair 2, TFIIH core complex helicase subunit)


Additional Information