BER gene polymorphisms associated with key molecular events in bladder cancer
Summary. Aim: Base excision repair (BER) gene polymorphisms are known to play an independent role in predisposition to developing different cancers as well as to be associated with clinicopathological traits of the disease modifying its clinical outcomes. One of the underlying mechanisms is presumed...
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| Дата: | 2018 |
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| Мова: | English |
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PH Akademperiodyka
2018
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| Назва журналу: | Experimental Oncology |
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Experimental Oncology| id |
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Experimental Oncology |
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2025-04-30T11:55:13Z |
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English |
| topic |
BER gene polymorphisms bladder cancer LOH methylation mutability |
| spellingShingle |
BER gene polymorphisms bladder cancer LOH methylation mutability Smal, M.P. Kuzhir, T.D. Savina, N.V. Nikitchenko, N.V. Rolevich, A.I. Krasny, S.A. Goncharova, R.I. BER gene polymorphisms associated with key molecular events in bladder cancer |
| topic_facet |
BER gene polymorphisms bladder cancer LOH methylation mutability BER gene polymorphisms bladder cancer LOH methylation mutability |
| format |
Article |
| author |
Smal, M.P. Kuzhir, T.D. Savina, N.V. Nikitchenko, N.V. Rolevich, A.I. Krasny, S.A. Goncharova, R.I. |
| author_facet |
Smal, M.P. Kuzhir, T.D. Savina, N.V. Nikitchenko, N.V. Rolevich, A.I. Krasny, S.A. Goncharova, R.I. |
| author_sort |
Smal, M.P. |
| title |
BER gene polymorphisms associated with key molecular events in bladder cancer |
| title_short |
BER gene polymorphisms associated with key molecular events in bladder cancer |
| title_full |
BER gene polymorphisms associated with key molecular events in bladder cancer |
| title_fullStr |
BER gene polymorphisms associated with key molecular events in bladder cancer |
| title_full_unstemmed |
BER gene polymorphisms associated with key molecular events in bladder cancer |
| title_sort |
ber gene polymorphisms associated with key molecular events in bladder cancer |
| title_alt |
BER gene polymorphisms associated with key molecular events in bladder cancer |
| description |
Summary. Aim: Base excision repair (BER) gene polymorphisms are known to play an independent role in predisposition to developing different cancers as well as to be associated with clinicopathological traits of the disease modifying its clinical outcomes. One of the underlying mechanisms is presumed to include interplay between BER gene polymorphisms and key mutational, epigenetic and chromosomal events in tumor tissues. The present study was aimed at elucidating potential gene-gene interaction and assessing their mutual effects in bladder cancer (BC). Materials and Methods: The earlier obtained data on genotyping patients with verified diagnosis of BC for OGG1 rs1052133 (Ser326Cys) and XRCC1 rs25487 (Arg399Gln) polymorphisms were used for this study. The tumor tissue samples from the same patients were analyzed for mutations, epigenetic variations and losses of heterozygosity in some key genes involved in divergent pathogenic pathways of BC. Results: It was shown that the OGG1 (326 codon) heterozygous genotype as well as the minor 326Cys allele can intensify a mutational response of the RAS locus in urothelial carcinomas in the total cohort of patients simultaneously decreasing the mutation rates in the PIK3CA locus in smokers. The XRCC1 (399 codon) heterozygous genotype as well as the minor 399Gln allele reduced the frequency of LOH in the PTEN and TNKS genes, but did not affect the mutational variability in any locus tested. Both polymorphisms influenced the methylation status, carriers of OGG1 326Ser/Cys or Ser/Cys+Cys/Cys genotypes demonstrating increased frequency of methylated RUNX3 and ISL1 genes whereas the similar effect of XRCC1 polymorphism concerning methylation of p16 and TIMP3 genes. When dividing the total cohort into groups based on the extent of tumor spread, the observed associations were characteristic of non-muscle invasive BC. Conclusion: The BER gene polymorphisms contributed to modification of key molecular events in urothelial carcinomas. Their mutual effects mainly manifested in non-muscle invasive BC. The underlying mechanisms as well as possible clinical outcomes need to be further explored to propose novel prognostic biomarkers for BC. |
| publisher |
PH Akademperiodyka |
| publishDate |
2018 |
| url |
https://exp-oncology.com.ua/index.php/Exp/article/view/2018-4-5 |
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oai:ojs2.ex.aqua-time.com.ua:article-2832025-04-30T11:55:13Z BER gene polymorphisms associated with key molecular events in bladder cancer BER gene polymorphisms associated with key molecular events in bladder cancer Smal, M.P. Kuzhir, T.D. Savina, N.V. Nikitchenko, N.V. Rolevich, A.I. Krasny, S.A. Goncharova, R.I. BER gene polymorphisms, bladder cancer, LOH, methylation, mutability BER gene polymorphisms, bladder cancer, LOH, methylation, mutability Summary. Aim: Base excision repair (BER) gene polymorphisms are known to play an independent role in predisposition to developing different cancers as well as to be associated with clinicopathological traits of the disease modifying its clinical outcomes. One of the underlying mechanisms is presumed to include interplay between BER gene polymorphisms and key mutational, epigenetic and chromosomal events in tumor tissues. The present study was aimed at elucidating potential gene-gene interaction and assessing their mutual effects in bladder cancer (BC). Materials and Methods: The earlier obtained data on genotyping patients with verified diagnosis of BC for OGG1 rs1052133 (Ser326Cys) and XRCC1 rs25487 (Arg399Gln) polymorphisms were used for this study. The tumor tissue samples from the same patients were analyzed for mutations, epigenetic variations and losses of heterozygosity in some key genes involved in divergent pathogenic pathways of BC. Results: It was shown that the OGG1 (326 codon) heterozygous genotype as well as the minor 326Cys allele can intensify a mutational response of the RAS locus in urothelial carcinomas in the total cohort of patients simultaneously decreasing the mutation rates in the PIK3CA locus in smokers. The XRCC1 (399 codon) heterozygous genotype as well as the minor 399Gln allele reduced the frequency of LOH in the PTEN and TNKS genes, but did not affect the mutational variability in any locus tested. Both polymorphisms influenced the methylation status, carriers of OGG1 326Ser/Cys or Ser/Cys+Cys/Cys genotypes demonstrating increased frequency of methylated RUNX3 and ISL1 genes whereas the similar effect of XRCC1 polymorphism concerning methylation of p16 and TIMP3 genes. When dividing the total cohort into groups based on the extent of tumor spread, the observed associations were characteristic of non-muscle invasive BC. Conclusion: The BER gene polymorphisms contributed to modification of key molecular events in urothelial carcinomas. Their mutual effects mainly manifested in non-muscle invasive BC. The underlying mechanisms as well as possible clinical outcomes need to be further explored to propose novel prognostic biomarkers for BC. Summary. Aim: Base excision repair (BER) gene polymorphisms are known to play an independent role in predisposition to developing different cancers as well as to be associated with clinicopathological traits of the disease modifying its clinical outcomes. One of the underlying mechanisms is presumed to include interplay between BER gene polymorphisms and key mutational, epigenetic and chromosomal events in tumor tissues. The present study was aimed at elucidating potential gene-gene interaction and assessing their mutual effects in bladder cancer (BC). Materials and Methods: The earlier obtained data on genotyping patients with verified diagnosis of BC for OGG1 rs1052133 (Ser326Cys) and XRCC1 rs25487 (Arg399Gln) polymorphisms were used for this study. The tumor tissue samples from the same patients were analyzed for mutations, epigenetic variations and losses of heterozygosity in some key genes involved in divergent pathogenic pathways of BC. Results: It was shown that the OGG1 (326 codon) heterozygous genotype as well as the minor 326Cys allele can intensify a mutational response of the RAS locus in urothelial carcinomas in the total cohort of patients simultaneously decreasing the mutation rates in the PIK3CA locus in smokers. The XRCC1 (399 codon) heterozygous genotype as well as the minor 399Gln allele reduced the frequency of LOH in the PTEN and TNKS genes, but did not affect the mutational variability in any locus tested. Both polymorphisms influenced the methylation status, carriers of OGG1 326Ser/Cys or Ser/Cys+Cys/Cys genotypes demonstrating increased frequency of methylated RUNX3 and ISL1 genes whereas the similar effect of XRCC1 polymorphism concerning methylation of p16 and TIMP3 genes. When dividing the total cohort into groups based on the extent of tumor spread, the observed associations were characteristic of non-muscle invasive BC. Conclusion: The BER gene polymorphisms contributed to modification of key molecular events in urothelial carcinomas. Their mutual effects mainly manifested in non-muscle invasive BC. The underlying mechanisms as well as possible clinical outcomes need to be further explored to propose novel prognostic biomarkers for BC. PH Akademperiodyka 2018-12-22 Article Article application/pdf https://exp-oncology.com.ua/index.php/Exp/article/view/2018-4-5 Experimental Oncology; Vol. 40 No. 4 (2018): Experimental Oncology; 288-298 Експериментальна онкологія; Том 40 № 4 (2018): Експериментальна онкологія; 288-298 2312-8852 1812-9269 en https://exp-oncology.com.ua/index.php/Exp/article/view/2018-4-5/2018-4-5 Copyright (c) 2023 Experimental Oncology https://creativecommons.org/licenses/by-nc/4.0/ |