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Beata Smolarz - One of the best experts on this subject based on the ideXlab platform.
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association between single nucleotide polymorphisms snps of XRCC2 and xrcc3 homologous recombination repair genes and ovarian cancer in polish women
Experimental and Molecular Pathology, 2016Co-Authors: Magdalena M Michalska, Dariusz Samulak, Hanna Romanowicz, Filip Jablonski, Beata SmolarzAbstract:The variability, perceived in DNA repair genes, may be of clinical importance for evaluation of the risk of occurrence of a given type of cancer, its prophylactics and therapy. The aim of the present work was to evaluate associations between the risk of ovarian cancer and polymorphisms in the genes, encoding for two key proteins of homologous recombination: XRCC2 Arg188His (c. 563 G>A; rs3218536) and XRCC3 Thr241Met (c. 722 C>T; rs861539). The study consisted of 700 patients with ovarian cancer and 700 healthy subjects. Analysis of the gene polymorphisms was performed using PCR-RFLP (restriction length fragment polymorphism). We found a statistically significant increase of the 188His allele frequency (OR=4.01; 95% CI=3.40-4.72; p<.0001) of XRCC2 in ovarian cancer compared to healthy controls. There were no differences in the genotype and allele distributions and odds ratios of the XRCC3 Thr241Met polymorphism between patient and control groups. Association of these genetic polymorphisms with histological grading showed increased XRCC2 188Arg/His (OR=33.0; 95% CI=14.51-75.05; p<.0001) and 188His/His genotypes (OR=9.37; 95% CI=4.79-18.32; p<.0001) and XRCC3 241Thr/Met (OR=24.28; 95% CI=12.38-47.61; p<.0001) and 241Met/Met genotype frequencies (OR=17.00; 95% CI=8.42-34.28; p<.0001) in grading 1 (G1) as well as 188His (OR=2.78; 95% CI=2.11-3.69; p<.0001) and 241Met allele overrepresentation (OR=2.59; 95% CI=2.08-3.22; p<.0001) in G1 ovarian patients. Finally, with clinical FIGO staging under evaluation, an increase in XRCC2 188His/His homozygote and 188Arg/His heterozygote frequencies in staging I (SI) and XRCC3 Thr/Met heterozygote frequencies in SI was observed. The obtained results indicate that XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms may be positively associated with the incidence of ovarian carcinoma in the population of Polish women.
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Analysis of XRCC2 and XRCC3 gene polymorphisms in pancreatic cancer.
Biomedical Reports, 2015Co-Authors: Renata Talar‑wojnarowska, Beata Smolarz, Anita Gąsiorowska, Marek Olakowski, Daria Dranka‑bojarowska, Paweł Lampe, Ewa Małecka‑panasAbstract:The double-strand break DNA repair pathway, including XRCC2 and XRCC3 genes, is implicated in maintaining genomic stability and therefore could affect the pancreatic cancer risk. The aim of the present study was to evaluate the clinical significance of the XRCC2 and XRCC3 gene polymorphisms in patients with pancreatic cancer. The present study included 203 patients: 101 with pancreatic cancer and 102 healthy controls. The Arg188His XRCC2 and the Thr241Met XRCC3 gene polymorphisms have been studied in DNA isolated from blood samples. The associations of the analysed genotypes and clinical data at diagnosis have been evaluated. The frequencies of the genotypes of the Arg188His XRCC2 and Thr241Met XRCC3 polymorphisms did not differ significantly between patients and controls. The study did not identify a correlation between the XRCC2 and XRCC3 genes polymorphisms and tumor size or localisation. Analysed polymorphisms were also not associated with the gender and age of the patient, or the presence of regional or distant metastases. In conclusion, the present study did not suggest an association between the Arg188His XRCC2 and the Thr241Met XRCC3 polymorphisms and the clinical data of patients with pancreatic cancer.
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association between single nucleotide polymorphisms snps of XRCC2 and xrcc3 homologous recombination repair genes and triple negative breast cancer in polish women
Clinical and Experimental Medicine, 2015Co-Authors: Beata Smolarz, Marianna Makowska, Dariusz Samulak, Magdalena M Michalska, Ewa Mojs, Maciej Wilczak, Hanna RomanowiczAbstract:XRCC2 and XRCC3 genes involved in homologous recombination repair (HRR) of DNA and in the maintenance of the genome integrity play a crucial role in protecting against mutations that lead to cancer. The aim of the present work was to evaluate associations between the risk of triple-negative breast cancer (TNBC) and polymorphisms in the genes, encoding for two key proteins of HRR: XRCC2 Arg188His (c. 563 G>A; rs3218536, Genbank Accession Number NT 007914) and XRCC3 Thr241Met (c. 722 C>T; rs861539, Genbank Accession Number NT 026437). The polymorphisms of the XRCC2 and XRCC3 were investigated by PCR–RFLP in 70 patients with TNBC and 70 age- and sex-matched non-cancer controls. In the present work, a relationship was identified between XRCC2 Arg188His polymorphism and the incidence of triple-negative breast cancer. The 188His allele and 188His/His homozygous variant increased cancer risk. An association was confirmed between XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms and TNBC progression, assessed by the degree of lymph node metastases and histological grades. In conclusion, XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms may be regarded as predictive factors of triple-negative breast cancer in female population.
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single nucleotide polymorphisms of rad51 g135c XRCC2 arg188his and xrcc3 thr241met homologous recombination repair genes and the risk of sporadic endometrial cancer in polish women
Journal of Obstetrics and Gynaecology Research, 2012Co-Authors: Hanna Romanowiczmakowska, Beata Smolarz, Ireneusz Polac, Stanislaw SpornyAbstract:Background: The genes RAD51, XRCC2 and XRCC3 encode proteins that are important for the repair of double-strand DNA breaks by homologous recombination. Therefore, genetic variability in these genes may contribute to the occurrence and progression of endometrial cancer. Methods: The subject of investigation in the reported study was the distribution of genotypes and the prevalence of alleles of the RAD51 G135C, XRCC2 Arg188His and XRCC3 Thr241Met polymorphism in 230 cases of sporadic endometrial cancer; the polymorphisms were determined by polymerase chain reaction–restriction fragment-length polymorphism methods. Results: The obtained results demonstrated a significant positive association between the RAD51 C/C genotype and endometrial carcinoma, with an adjusted odds ratio (OR) of 3.75 (P < 0.0001). The homozygous C/C genotype was found in 72% of endometrial cancer cases and in 19% of the used controls. The variant 135C allele of RAD51 increased the cancer risk (OR = 1.64 [1.28–2.10]P < 0.0001). There were no significant differences between the distribution of G135C, Arg188His and Thr241Met genotypes in the subgroups assigned to histological grades. Conclusions: The obtained results indicate that the polymorphism of RAD51, but not of either XRCC2 or XRCC3 genes, may be positively associated with the incidence of endometrial carcinoma in the population of Polish women. Further studies, including those on a larger group of patients, are required to further clarify this point.
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the association between polymorphisms of the rad51 g135c XRCC2 arg188his and xrcc3 thr241met genes and clinico pathologic features in breast cancer in poland
European Journal of Gynaecological Oncology, 2012Co-Authors: Hanna Romanowiczmakowska, Beata Smolarz, Marek Zadrozny, B Westfa, Jakub Baszczynski, G Kokolaszwili, M Burzyfiski, Ireneusz Polac, Stanislaw SpornyAbstract:BACKGROUND: XRCC2 and XRCC3 genes are structurally and functionally related to RAD51 which plays an important role in homologous recombination, the process frequently involved in cancer transformation. MATERIAL AND METHODS: In the present work the distribution of genotypes and frequency of alleles of the RAD51 G135C polymorphism, XRCC2 Arg 188His and XRCC3 Thr241Met polymorphism in 790 cases of breast cancer were investigated. The control group consisted of 798 cancer-free blood donors (age +/- 5 years) who were sex and ethnicity-matched. The polymorphisms were determined by PCR-RFLP methods. We also correlated genotypes with the clinical characteristics of breast cancer patients. RESULTS: Our results obtained for the 135G>C polymorphism of the RAD51 gene indicated that both the C/C genotype and the C allele are strongly associated with breast cancer. The Arg/His genotype of XRCC2 (OR = 2.16, 95% CI = 1.48-3.16) and Thr/Met of XRCC3 increased the risk of type I breast cancer occurrence (OR = 2.33, 95% CI = 1.60-3.41). We did not find any association with the RAD51, XRCC2/3 gene polymorphism and estrogen and progesterone receptor status. CONCLUSION: The results support the hypothesis that the polymorphism of RAD51 and XRCC2/3 gene may be associated with the incidence of sporadic breast cancer in Polish women.
Hanna Romanowicz - One of the best experts on this subject based on the ideXlab platform.
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association between single nucleotide polymorphisms snps of XRCC2 and xrcc3 homologous recombination repair genes and ovarian cancer in polish women
Experimental and Molecular Pathology, 2016Co-Authors: Magdalena M Michalska, Dariusz Samulak, Hanna Romanowicz, Filip Jablonski, Beata SmolarzAbstract:The variability, perceived in DNA repair genes, may be of clinical importance for evaluation of the risk of occurrence of a given type of cancer, its prophylactics and therapy. The aim of the present work was to evaluate associations between the risk of ovarian cancer and polymorphisms in the genes, encoding for two key proteins of homologous recombination: XRCC2 Arg188His (c. 563 G>A; rs3218536) and XRCC3 Thr241Met (c. 722 C>T; rs861539). The study consisted of 700 patients with ovarian cancer and 700 healthy subjects. Analysis of the gene polymorphisms was performed using PCR-RFLP (restriction length fragment polymorphism). We found a statistically significant increase of the 188His allele frequency (OR=4.01; 95% CI=3.40-4.72; p<.0001) of XRCC2 in ovarian cancer compared to healthy controls. There were no differences in the genotype and allele distributions and odds ratios of the XRCC3 Thr241Met polymorphism between patient and control groups. Association of these genetic polymorphisms with histological grading showed increased XRCC2 188Arg/His (OR=33.0; 95% CI=14.51-75.05; p<.0001) and 188His/His genotypes (OR=9.37; 95% CI=4.79-18.32; p<.0001) and XRCC3 241Thr/Met (OR=24.28; 95% CI=12.38-47.61; p<.0001) and 241Met/Met genotype frequencies (OR=17.00; 95% CI=8.42-34.28; p<.0001) in grading 1 (G1) as well as 188His (OR=2.78; 95% CI=2.11-3.69; p<.0001) and 241Met allele overrepresentation (OR=2.59; 95% CI=2.08-3.22; p<.0001) in G1 ovarian patients. Finally, with clinical FIGO staging under evaluation, an increase in XRCC2 188His/His homozygote and 188Arg/His heterozygote frequencies in staging I (SI) and XRCC3 Thr/Met heterozygote frequencies in SI was observed. The obtained results indicate that XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms may be positively associated with the incidence of ovarian carcinoma in the population of Polish women.
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association between single nucleotide polymorphisms snps of XRCC2 and xrcc3 homologous recombination repair genes and triple negative breast cancer in polish women
Clinical and Experimental Medicine, 2015Co-Authors: Beata Smolarz, Marianna Makowska, Dariusz Samulak, Magdalena M Michalska, Ewa Mojs, Maciej Wilczak, Hanna RomanowiczAbstract:XRCC2 and XRCC3 genes involved in homologous recombination repair (HRR) of DNA and in the maintenance of the genome integrity play a crucial role in protecting against mutations that lead to cancer. The aim of the present work was to evaluate associations between the risk of triple-negative breast cancer (TNBC) and polymorphisms in the genes, encoding for two key proteins of HRR: XRCC2 Arg188His (c. 563 G>A; rs3218536, Genbank Accession Number NT 007914) and XRCC3 Thr241Met (c. 722 C>T; rs861539, Genbank Accession Number NT 026437). The polymorphisms of the XRCC2 and XRCC3 were investigated by PCR–RFLP in 70 patients with TNBC and 70 age- and sex-matched non-cancer controls. In the present work, a relationship was identified between XRCC2 Arg188His polymorphism and the incidence of triple-negative breast cancer. The 188His allele and 188His/His homozygous variant increased cancer risk. An association was confirmed between XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms and TNBC progression, assessed by the degree of lymph node metastases and histological grades. In conclusion, XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms may be regarded as predictive factors of triple-negative breast cancer in female population.
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genetics polymorphism in dna repair genes by base excision repair pathway xrcc1 and homologous recombination XRCC2 and rad51 and the risk of breast carcinoma in the polish population
Polish Journal of Pathology, 2011Co-Authors: Hanna Romanowicz, Beata Smolarz, Marek Zadrozny, Jakub Baszczynski, Andrzej KuligAbstract:1 , JAKUB BASZCZYŃSKI 2 , MAREK ZADROŻNY Background: Several polymorphisms in the DNA repair gene have been exten- sively studied in the association with various human cancers such as breast cancer. Material and methods: We investigated the association of polymorphisms in the DNA repair genes XRCC1-Arg399Gln, XRCC2-Arg188His and RAD51-135G/C with the breast cancer risk. Genotypes were determined by PCR-RFLP assays in 220 patients with breast cancer and 220 age-matched healthy controls. Results: Our results demonstrated a significant positive association between the XRCC1 399Gln/Gln homozygous genotype and breast carcinoma, with an adjusted odds ratio (OR) of 2.08 (1.08-3.98). The 399Gln allele variant was also associated with type I breast cancer (OR = 1.41 (0.98-2.01), p = 0.034). The distributions of genotypes and alleles of the genes XRCC2 and RAD51 polymorphism were not sig- nificantly associated with the different stages of breast carcinoma (p > 0.05). Conclusion: These results suggest that 399Gln allele of XRCC1 Arg399Gln may be a risk factor for breast cancer in the Polish population.
Magdalena M Michalska - One of the best experts on this subject based on the ideXlab platform.
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association between single nucleotide polymorphisms snps of XRCC2 and xrcc3 homologous recombination repair genes and ovarian cancer in polish women
Experimental and Molecular Pathology, 2016Co-Authors: Magdalena M Michalska, Dariusz Samulak, Hanna Romanowicz, Filip Jablonski, Beata SmolarzAbstract:The variability, perceived in DNA repair genes, may be of clinical importance for evaluation of the risk of occurrence of a given type of cancer, its prophylactics and therapy. The aim of the present work was to evaluate associations between the risk of ovarian cancer and polymorphisms in the genes, encoding for two key proteins of homologous recombination: XRCC2 Arg188His (c. 563 G>A; rs3218536) and XRCC3 Thr241Met (c. 722 C>T; rs861539). The study consisted of 700 patients with ovarian cancer and 700 healthy subjects. Analysis of the gene polymorphisms was performed using PCR-RFLP (restriction length fragment polymorphism). We found a statistically significant increase of the 188His allele frequency (OR=4.01; 95% CI=3.40-4.72; p<.0001) of XRCC2 in ovarian cancer compared to healthy controls. There were no differences in the genotype and allele distributions and odds ratios of the XRCC3 Thr241Met polymorphism between patient and control groups. Association of these genetic polymorphisms with histological grading showed increased XRCC2 188Arg/His (OR=33.0; 95% CI=14.51-75.05; p<.0001) and 188His/His genotypes (OR=9.37; 95% CI=4.79-18.32; p<.0001) and XRCC3 241Thr/Met (OR=24.28; 95% CI=12.38-47.61; p<.0001) and 241Met/Met genotype frequencies (OR=17.00; 95% CI=8.42-34.28; p<.0001) in grading 1 (G1) as well as 188His (OR=2.78; 95% CI=2.11-3.69; p<.0001) and 241Met allele overrepresentation (OR=2.59; 95% CI=2.08-3.22; p<.0001) in G1 ovarian patients. Finally, with clinical FIGO staging under evaluation, an increase in XRCC2 188His/His homozygote and 188Arg/His heterozygote frequencies in staging I (SI) and XRCC3 Thr/Met heterozygote frequencies in SI was observed. The obtained results indicate that XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms may be positively associated with the incidence of ovarian carcinoma in the population of Polish women.
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association between single nucleotide polymorphisms snps of XRCC2 and xrcc3 homologous recombination repair genes and triple negative breast cancer in polish women
Clinical and Experimental Medicine, 2015Co-Authors: Beata Smolarz, Marianna Makowska, Dariusz Samulak, Magdalena M Michalska, Ewa Mojs, Maciej Wilczak, Hanna RomanowiczAbstract:XRCC2 and XRCC3 genes involved in homologous recombination repair (HRR) of DNA and in the maintenance of the genome integrity play a crucial role in protecting against mutations that lead to cancer. The aim of the present work was to evaluate associations between the risk of triple-negative breast cancer (TNBC) and polymorphisms in the genes, encoding for two key proteins of HRR: XRCC2 Arg188His (c. 563 G>A; rs3218536, Genbank Accession Number NT 007914) and XRCC3 Thr241Met (c. 722 C>T; rs861539, Genbank Accession Number NT 026437). The polymorphisms of the XRCC2 and XRCC3 were investigated by PCR–RFLP in 70 patients with TNBC and 70 age- and sex-matched non-cancer controls. In the present work, a relationship was identified between XRCC2 Arg188His polymorphism and the incidence of triple-negative breast cancer. The 188His allele and 188His/His homozygous variant increased cancer risk. An association was confirmed between XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms and TNBC progression, assessed by the degree of lymph node metastases and histological grades. In conclusion, XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms may be regarded as predictive factors of triple-negative breast cancer in female population.
Antonia Velázquez - One of the best experts on this subject based on the ideXlab platform.
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association studies of ogg1 xrcc1 XRCC2 and xrcc3 polymorphisms with differentiated thyroid cancer
Mutation Research, 2011Co-Authors: Wilserandres Garciaquispes, Giselle Perezmachado, Abdelmounaim Akdi, Susana Pastor, Fina Biarnes, Joan Castell, Antonia Velázquez, Pere GalofreAbstract:Abstract The role of the DNA repair genes OGG1 , XRCC1 , XRCC2 and XRCC3 on differentiated thyroid cancer (DTC) susceptibility was examined in 881 individuals (402 DTC and 479 controls). DNA repair genes were proposed as candidate genes, since the current data indicate that exposure to ionizing radiation is the only established factor in the development of thyroid cancer, especially when it occurs in early stages of life. We have genotyped DNA repair genes involved in base excision repair (BER) ( OGG1 , Ser326Cys; XRCC1 , Arg280His and Arg399Gln), and homologous recombination repair (HRR) ( XRCC2 , Arg188His and XRCC3 , ISV-14G). Genotyping was carried out using the iPLEX (Sequenom) technique. Multivariate logistic regression analyses were performed in a case-control study design. From all the studied polymorphism, only a positive association (OR = 1.58, 95% CI 1.05–2.46, P = 0.027) was obtained for XRCC1 (Arg280His). No associations were observed for the other polymorphisms. No effects of the histopathological type of tumor were found when the DTC patients were stratified according to the type of tumor. It must be emphasized that this study include the greater patients group, among the few studies carried out until now determining the role of DNA repair genes in thyroid cancer susceptibility.
Sankar Kumar Ghosh - One of the best experts on this subject based on the ideXlab platform.
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polymorphisms of xrcc1 and XRCC2 dna repair genes and interaction with environmental factors influence the risk of nasopharyngeal carcinoma in northeast india
Asian Pacific Journal of Cancer Prevention, 2016Co-Authors: Seram Anil Singh, Sankar Kumar GhoshAbstract:Multiple genetic and environmental factors have been reported to play key role in the development of nasopharyngeal carcinoma (NPC). Here, we investigated interactions of XRCC1 Arg399Gln and XRCC2 Arg188His polymorphisms and environmental factors in modulating susceptibility to NPC in Northeast India. One-hundred NPC patients, 90 first-degree relatives of patients and 120 controls were enrolled in the study. XRCC1 Arg399Gln and XRCC2 Arg188His polymorphisms were determined using PCR-RFLP, and the results were confirmed by DNA sequencing. Logistic regression (LR) and multifactor dimensionality reduction (MDR) approaches were applied for statistical analysis. The XRCC1 Gln/Gln genotype showed increased risk (OR=2.76; P<0.024) of NPC. However, individuals with both XRCC1 and XRCC2 polymorphic variants had 3.2 fold elevated risk (P<0.041). An enhanced risk of NPC was also observed in smoked meat (OR=4.07; P=0.004) and fermented fish consumers (OR=4.34, P=0.001), and tobacco-betel quid chewers (OR=7.00; P=0.0001) carrying XRCC1 polymorphic variants. However, smokers carrying defective XRCC1 gene showed the highest risk (OR = 7.47; P<0.0001). On MDR analysis, the best model for NPC risk was the five-factor model combination of XRCC1 variant genotype, fermented fish, smoked meat, smoking and chewing (CVC=10/10; TBA=0.636; P<0.0001); whereas in interaction entropy graphs, smoked meat and tobacco chewing showed synergistic interactions with XRCC1. These findings suggest that interaction of genetic and environmental factors might increase susceptibility to NPC in Northeast Indian populations.
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combined effect of tobacco and dna repair genes polymorphisms of xrcc1 and XRCC2 influence high risk of head and neck squamous cell carcinoma in northeast indian population
Medical Oncology, 2014Co-Authors: Javed Hussain Choudhury, Biswadeep Choudhury, Sharbadeb Kundu, Sankar Kumar GhoshAbstract:Tobacco consumption in various forms is one of the major risk factor for the development of head and neck squamous cell carcinoma. Polymorphisms in XRCC1 and XRCC2 genes may alter an individual’s susceptibility to tobacco-related cancers. Here, we have investigated the interaction of XRCC1 (Arg399Gln) and XRCC2 (Arg188His) polymorphism and tobacco exposure in the progression of HNSCC in northeast Indian population. The population-based case–control study includes 110 HNSCC patients and 140 controls. The polymorphisms of XRCC1 and XRCC2 were studied by means of PCR–RFLP, and the results were confirmed by DNA sequencing. Smokers and tobacco-betel quid chewers were significantly higher in cases (P = 0.045 and 0.033). The variant homozygote AA genotype of XRCC1 Arg399Gln and heterozygote GA genotype of XRCC2 Arg188His has an increased risk toward HNSCC (OR 2.43; P = 0.031 and OR 3.29; P < 0.01, respectively). The interaction between tobacco-betel quid chewing and variant genotypes of XRCC1 and XRCC2 resulted in several fold increase the risk of HNSCC, when compared to non-chewers. Heavy smokers carrying XRCC1 AA and XRCC2 GA genotypes had a significantly higher risk of HNSCC compared to never smokers (P = 0.017 and 0.003, respectively). Upon gene–gene interaction analysis, individuals carrying both XRCC1 GA (Arg/Gln) and XRCC2 GA (Arg/His) genotypes had the highest risk of HNSCC (P = 0.001).Our finding suggests that interaction of tobacco and polymorphisms of XRCC1 and XRCC2 increases the risk of HNSCC. Furthermore, cross talk between these two DNA repair genes might modulate susceptibility toward HNSCC.
