Association between the c.*229C>T polymorphism of the topoisomerase IIβ binding protein 1 (TopBP1) gene and breast cancer
| العنوان: | Association between the c.*229C>T polymorphism of the topoisomerase IIβ binding protein 1 (TopBP1) gene and breast cancer |
|---|---|
| المؤلفون: | Agnieszka Szymczyk, Waldemar Różański, Beata Smolarz, Paweł Jóźwiak, Magdalena Bryś, Ewa Brzeziańska, Hanna Romanowicz-Makowska, Grażyna Chwatko, Anna Krześlak, Ewa Forma |
| المساهمون: | E. Forma A. Krześlak P. Jóźwiak A. Szymczyk M. Bryś Department of Cytobiochemistry, University of Łodz, Pomorska 141/143, 90-236 Lodz, Poland, E. Brzeziańska Department of Molecular Bases of Medicine, Medical University of Łodz, Pomorska 251, 92-213 Lodz, Poland, G. Chwatko Department of Environmental Chemistry, University of Łodz, Pomorska 163, 90-236 Lodz, Poland, B. Smolarz H. Romanowicz-Makowska Department of Clinical Pathomorphology, Polish Mother’s Memorial Hospital Research Institute, Łodz, Rzgowska 281/289, 93-338 Lodz, Poland, W. Różański 2nd Department of Urology, Medical University of Łodz, Pabianicka 62, 93-513 Lodz, Poland |
| المصدر: | Molecular Biology Reports |
| بيانات النشر: | Springer Netherlands, 2013. |
| سنة النشر: | 2013 |
| مصطلحات موضوعية: | Adult, Genotype, Population, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, Article, Breast cancer, Gene Frequency, Risk Factors, Genetics, medicine, Odds Ratio, Humans, Genetic Predisposition to Disease, Genetic variation, Allele, Polymorphism, education, Molecular Biology, Allele frequency, 3' Untranslated Regions, Alleles, Aged, Neoplasm Staging, Aged, 80 and over, education.field_of_study, Base Sequence, Nuclear Proteins, General Medicine, Middle Aged, TOPBP1 Gene, medicine.disease, Topoisomerase IIβ binding protein 1, Minor allele frequency, DNA-Binding Proteins, Topoisomerase IIb binding protein 1, Case-Control Studies, Cancer research, Female, Neoplasm Grading, Carrier Proteins |
| الوصف: | Topoisomerase IIb binding protein 1 (TopBP1) is involved in cell survival, DNA replication, DNA damage repair and cell cycle checkpoint control. The biological function of TopBP1 and its close relation with BRCA1 prompted us to investigate whether alterations in the TopBP1 gene can influence the risk of breast cancer. The aim of this study was to examine the association between five polymorphisms (rs185903567, rs116645643, rs115160714, rs116195487, and rs112843513) located in the 30UTR region of the TopBP1 gene and breast cancer risk as well as allele-specific gene expression. Five hundred thirty-four breast cancer patients and 556 population controls were genotyped for these SNPs. Allele-specific Top- BP1 mRNA and protein expressions were determined by using real time PCR and western blotting methods, respectively. Only one SNP (rs115160714) showed an association with breast cancer. Compared to homozygous common allele carriers, heterozygous and homozygous for the T variant had significantly increased risk of breast cancer (adjusted odds ratio = 3.81, 95 % confidence interval: 1.63–8.34, p = 0.001). Mean TopBP1 mRNA and protein expression were higher in the individuals with the CT or TT genotype. There was a significant association between the rs115160714 and tumor grade and stage. Most carriers of minor allele had a high grade (G3) tumors classified as T2-T4N1M0. Our study raises a possibility that a genetic variation of TopBP1 may be implicated in the etiology of breast cancer. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1573-4978 0301-4851 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d10c55a3063c534f80cdaa9b524f1b6bTest http://europepmc.org/articles/PMC3611025Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....d10c55a3063c534f80cdaa9b524f1b6b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15734978 03014851 |
|---|