The c.*229C > T gene polymorphism in 3′UTR region of the topoisomerase IIβ binding protein 1 gene and LOH in BRCA1/2 regions and their effect on the risk and progression of human laryngeal carcinoma

Autor: Wioletta Pietruszewska, Katarzyna Starska, Iwona Lewy-Trenda, Magdalena Bryś, Piotr Ciesielski, Michał Skóra, Ewa Forma, Maria Nowacka-Zawisza
Rok vydání: 2015
Předmět:
Male
0301 basic medicine
Pathology
medicine.medical_specialty
Genes
BRCA2
Genes
BRCA1
Gene Expression
Loss of Heterozygosity
Single-nucleotide polymorphism
Kaplan-Meier Estimate
Biology
Polymorphism
Single Nucleotide
Loss of heterozygosity
03 medical and health sciences
0302 clinical medicine
Gene Frequency
Risk Factors
medicine
Carcinoma
Humans
Genetic Predisposition to Disease
Neoplasm Invasiveness
Allele
3' Untranslated Regions
Laryngeal Neoplasms
Genetic Association Studies
Aged
Nuclear Proteins
Cancer
General Medicine
Odds ratio
Middle Aged
Prognosis
medicine.disease
Tumor Burden
DNA-Binding Proteins
030104 developmental biology
Genetic marker
Case-Control Studies
Lymphatic Metastasis
030220 oncology & carcinogenesis
Carcinoma
Squamous Cell
Disease Progression
Cancer research
Female
Gene polymorphism
Carrier Proteins
Zdroj: Tumor Biology. 37:4541-4557
ISSN: 1423-0380
1010-4283
Popis: Topoisomerase IIβ binding protein 1 (TopBP1), a multiple-BRCT-domain, protein plays crucial roles in chromosome replication, DNA damage repair, apoptosis, and cell cycle checkpoint signalling. The aim of this study was to identify five SNPs at loci potentially located in the 3'UTR region of the TopBP1 gene (rs185903567, rs116645643, rs115160714, rs116195487, rs112843513), their relationship with the risk of squamous cell laryngeal cancer (SCLC), tumor invasiveness, and prognosis. Genotyping was performed in 323 genetically unrelated individuals with SCLC and 418 randomly selected healthy volunteers. Allele-specific TopBP1 mRNA and protein expressions were determined by using real-time PCR and Western blotting techniques, respectively. LOH in BRCA1/BRCA2 was determined by using microsatellite markers. Compared to homozygous common allele carriers, heterozygosity for the T variant was associated with increased risk of SCLC (adjusted odds ratio [OR] = 9.83, 95 % confidence interval [CI]: 3.12-22.16, p dominant
Databáze: OpenAIRE
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