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EN
Participation of DNA repair systems in the pathogenesis of cancer has been a suspected phenomenon for a long time. Decreased efficiency in DNA repair translates to their ability to fix and consequently leads to mutations and the process of carcinogenesis. Linking individual polymorphisms of DNA repair systems with an increased risk of colorectal cancer will allow the classification of patients to high-risk groups and their placement under preventive program. The aim of the study was to determine the effect of XPF gene polymorphism Ser835Ser on increasing the risk of colorectal cancer in the Polish population. Material and methods. as the material blood collected from 146 patients diagnosed with colon cancer was used. The control group consisted of 149 healthy subjects. Genotyping was performed by Taq- Man method. Results. The results indicate that genotype TCC/TCT is associated with an decreased risk of colorectal cancer (OR 0.574; CI 95% 0.335-0.984; p=0.043). Conclusions. Based on these results, we conclude that the XPF gene polymorphism Ser835Ser may be associated with a decreased risk of colorectal cancer
EN
The incidence of colorectal cancer (CRC) is increasing from year to year. Despite intensive research CRC etiology remains unknown. Studies suggest that at the basis of the process of carcinogenesis can lie reduced efficiency of DNA repair mechanisms, often caused by polymorphisms in DNA repair genes. The aim of the study was to determine the relationship between gene polymorphism Lys589Glu of EXO1 gene and modulation of the risk of colorectal cancer in the Polish population. Determination of the molecular basis of carcinogenesis process and predicting increased risk will allow qualifying patients to increased risk group and including them in preventive program. Material and methods. The material used in study was blood collected from 130 patients diagnosed with colorectal cancer. The control group consisted of 135 healthy people. Genotyping was performed by TaqMan method. Results. The results obtained indicate that the genotype Lys/Glu is associated with an increased risk of colorectal cancer (OR 1.811, 95% Cl 1.031-3.181, p = 0.038). Conclusion. On the basis of these results, we conclude that Exo1 gene polymorphism Lys589Glu may be associated with an increased risk of colorectal cancer.
EN
Colorectal cancer (CRC) is one of the deadliest cancers which lie in the incidence of morbidity in second place. Intensive research is to determine and confirm the genetic basis of this disease, which is believed may have a direct relationship with the reduced efficiency of DNA repair systems. The aim of this study was to determine the effect of APEX gene polymorphism Ile64Val on increasing the risk of colorectal cancer in the Polish population. Material and methods. The blood samples collected from 150 patients diagnosed with colon cancer was used. The control group consisted of 150 healthy subjects. Genotyping was performed by TaqMan method. Results. The results indicate that genotype Ile Val is associated with an increased risk of colorectal cancer (OR 2.069; 95% CI 1,205-3,552; p = 0.008). Conclusions. Based on these results, we conclude that the APEX gene polymorphism Ile64Val may be associated with an increased risk of colorectal cancer.
EN
Colorectal cancer is one of the most commonly diagnosed cancer and a leading cause of death from cancer. DNA repair defects have been associated with an individual susceptibility to cancer. Therefore, polymorphisms of DNA repair genes, including XRCC1 gene, are suspected to may increase the risk of colorectal cancer.The aim of the study was to examine the association between Arg399Gln polymorphisms of XRCC1 gene and the occurrence of colorectal cancer. Research and understanding of the molecular basis of the formation of colorectal cancer will allow for typing of genetically loaded persons and qualifying them to a high-risk group.Material and methods. In case-control study we genotyped 150 colorectal cancer patients and 170 healthy subjects from Polish population. Analysis was performed by PCR-restriction fragment length polymorphism (PCR-RFLP).Results. We found that Gln/Gln genotype is associated with increased risk of colorectal cancer (OR 1.984; Cl 95% 1.070-3.677; p=0.029). We also found that Arg/Gln genotype is a risk factor for progression of tumor growth (OR 3.52; Cl 95% 1.157-10.707; p=0.023).Conclusions. The current state of research suggests a link between Arg399Gln XRCC1 polymorphism and increased risk of colorectal cancer. Therefore, we conclude that the Arg399Gln polymorphism of XRCC1 gene may underlie at the molecular basis of the causes of colorectal cancer.
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