The determination of relationship between 'excision repair cross-complementing group 1' (ERCC1) gene T19007C and C8092A single nucleotide polymorphisms and clinicopathological parameters in non-small cell lung cancer

Autor: Vildan Caner, Nilay Şen Türk, Gulseren Bagci, G. Ozan Çetin, Nur Büyükpınarbaşılı, Emre Tepeli, Esin Koç
Rok vydání: 2011
Předmět:
excision repair cross complementing group 1 gene
genetic association
DNA Repair
genotype
Non-small cell lung cancer
molecular pathology
oncogene
single nucleotide polymorphism
Carcinoma
Non-Small-Cell Lung

genetic variability
Genotype
DNA extraction
Excision repair cross-complementing
lung carcinogenesis
messenger RNA
adult
lung non small cell cancer
article
General Medicine
DNA-Binding Proteins
aged
female
real time polymerase chain reaction
histopathology
SNP array
DNA repair
Single-nucleotide polymorphism
gene frequency
Biology
Real-Time Polymerase Chain Reaction
Polymorphism
Single Nucleotide

male
Genetics
Humans
controlled study
Genetic Predisposition to Disease
human
Molecular Biology
Allele frequency
DNA Primers
Chi-Square Distribution
cancer staging
prediction
Endonucleases
heterozygote
major clinical study
Molecular biology
human tissue
clinical feature
gene function
ERCC1
upregulation
Real-time PCR
Nucleotide excision repair
Zdroj: Molecular Biology Reports. 39:375-380
ISSN: 1573-4978
0301-4851
DOI: 10.1007/s11033-011-0748-8
Popis: DNA repair plays a key role in prevention of carcinogenesis and one of the most important DNA repair mechanisms is nucleotide excision repair (NER) pathway. This pathway includes a number of genes such as excision repair cross-complementing group 1 (ERCC1) gene which are responsible for the 5′ incision of damaged DNA. A reduced DNA repair capacity associated with ERCC1 mRNA level has been observed in lung carcinogenesis. Two single nucleotide polymorphisms (SNPs) in ERCC1 gene, T19007C (rs11615) and C8092A (rs3212986), reportedly predict to affect the mRNA of ERCC1 in non-small cell lung cancer (NSCLC). To examine the role of two common SNPs in ERCC1 gene further, we conducted this study where 80 cases histopatologically diagnosed as NSCLC were genotyped. Genomic DNA was extracted from formalin-fixed, paraffin embedded tissues and two SNPs were analyzed using real-time PCR. The distributions of TT, TC, and CC genotypes of the T19007C SNP were 40, 44 and 16%, respectively. Significantly increased frequency of the patients carrying at least one 19007C allele was observed in early stage compared to advanced stage (P = 0.002). And also, the frequency of TC and CC genotypes significantly increased in younger patients compared to older patients (P = 0.035). Regarding C8092A SNP, the distribution of CC, CA, and AA genotypes was 38, 51 and 11%, respectively. There was no significant difference in the genotype distribution between C8092A SNP and clinicopathological parameters. This study indicated that harboring at least one 19007C allele may have protective effect in NSCLC. © 2011 Springer Science+Business Media B.V.
Databáze: OpenAIRE