NDLI: Topoisomerase IIß binding protein 1 c.*229C>T (rs115160714) gene polymorphism and endometrial cancer risk.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Forma, Ewa Wójcik-Krowiranda, Katarzyna Józwiak, Pawel Szymczyk, Agnieszka Bienkiewicz, Andrzej Brys, Magdalena Krzeslak, Anna
Description	Country affiliation: Poland Author Affiliation: Forma E ( Department of Cytobiochemistry, University of Lódz, Pomorska 141/143, 90-236, Lódz, Poland.)
Abstract	TopBP1 (topoisomerase IIß binding protein 1) protein is involved in DNA replication, DNA damage checkpoint response and transcriptional regulation. In this study we investigated whether alterations in the TopBP1 gene can influence the risk of endometrial cancer. We examined the association between five single nucleotide polymorphisms (rs185903567, rs116645643, rs115160714, rs116195487, and rs112843513) located in the 3'UTR region of the TopBP1 gene and endometrial cancer risk as well as allele-specific gene expression. One hundred twenty-one endometrial cancer patients were genotyped for these SNPs. Allele-specific TopBP1 mRNA and protein expressions were determined by real time PCR and western blotting methods, respectively. Only one SNP (rs115160714) showed an association with endometrial cancer. Compared to homozygous common allele carriers, heterozygous for the T variant had significantly increased risk of endometrial cancer [adjusted odds ratio (OR) = 5.59, 95 % confidence interval (CI): 1.96-15.91, p = 0.0003]. Mean TopBP1 mRNA and protein expression were higher in the individuals with the CT genotype. There was a significant association between the rs115160714 and tumor grade and FIGO classification. Most carriers of minor allele had a high grade tumors (G3) classified as FIGO III/IV. The results of our study raise a possibility that a genetic variation of TopBP1 may be implicated in the etiology of endometrial cancer.
File Format	HTM / HTML
ISSN	12194956
e-ISSN	15322807
DOI	10.1007/s12253-013-9737-7
Journal	Pathology & Oncology Research
Issue Number	3
Volume Number	20
Language	English
Publisher	Springer
Publisher Date	2014-07-01
Publisher Place	Netherlands
Access Restriction	Open
Subject Keyword	Discipline Oncology Tumor Markers, Biological Genetics Carrier Proteins Dna-binding Proteins Endometrial Neoplasms Pathology Neoplasm Recurrence, Local Nuclear Proteins Polymorphism, Single Nucleotide Metabolism Blotting, Western Case-control Studies Genetic Predisposition To Disease Genotype Lymphatic Metastasis Neoplasm Grading Neoplasm Invasiveness Neoplasm Staging Polymorphism, Restriction Fragment Length Prognosis Real-time Polymerase Chain Reaction Risk Factors Comparative Study
Content Type	Text
Resource Type	Article
Subject	Cancer Research Pathology and Forensic Medicine Oncology

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