The association of polymorphic markers Arg399Gln of XRCC1 gene, Arg72Pro of TP53 gene and T309G of MDM2 gene with breast cancer in Kyrgyz females

Isakova, Jainagul; Talaibekova, Elnura; Aldasheva, Nazira; Vinnikov, Denis; Aldashev, Almaz

doi:10.1186/s12885-017-3762-y

Cited by 13 publications

(7 citation statements)

References 20 publications

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“…DNA repair proteins functionally interact with each other, both within the same DNA repair pathway and across different pathways, establishing ground for additive or even multiplicative effects of different SNPs (irrespective of their pathway) on DNA repair activity and, hence, cancer risk. This has been previously demonstrated for other types of cancer such as breast cancer [28,29,30] and, most likely, also applies to DTC. Such hypothesis has not, to the best of our knowledge, been investigated, justifying the usefulness of assessing the effect of combined genotypes on DTC risk.…”

Section: Introductionsupporting

confidence: 63%

Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes

Santos

Gomes

Bastos

et al. 2019

Genes

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The incidence of thyroid cancer (TC), particularly well-differentiated forms (DTC), has been rising and remains the highest among endocrine malignancies. Although ionizing radiation (IR) is well established on DTC aetiology, other environmental and genetic factors may also be involved. DNA repair single nucleotide polymorphisms (SNPs) could be among the former, helping in explaining the high incidence. To further clarify the role of DNA repair SNPs in DTC susceptibility, we analyzed 36 SNPs in 27 DNA repair genes in a population of 106 DTCs and corresponding controls with the aim of interpreting joint data from previously studied isolated SNPs in DNA repair genes. Significant associations with DTC susceptibility were observed for XRCC3 rs861539, XPC rs2228001, CCNH rs2230641, MSH6 rs1042821 and ERCC5 rs2227869 and for a haplotype block on chromosome 5q. From 595 SNP-SNP combinations tested and 114 showing relevance, 15 significant SNP combinations (p < 0.01) were detected on paired SNP analysis, most of which involving CCNH rs2230641 and mismatch repair variants. Overall, a gene-dosage effect between the number of risk genotypes and DTC predisposition was observed. In spite of the volume of data presented, new studies are sought to provide an interpretability of the role of SNPs in DNA repair genes and their combinations in DTC susceptibility.

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Section: Introductionsupporting

confidence: 63%

Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes

Santos

Gomes

Bastos

et al. 2019

Genes

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“…Genotype distribution of the control population that met HWE was a minimum requirement for studies to be retained for the meta-analysis. Out of the 21 studies (7841cases and8876 controls), eleven were Caucasians [12-14, 23-28, 36, 37], nine were Asians [21,[29][30][31][32][33][34][35]38] and one was African [22] (Table 1). Table 2 shows pooled ORs and heterogeneity testresults of the association between the TP53 p.Arg72Pro polymorphism and the risk of breast cancer.…”

Section: Discussionmentioning

confidence: 99%

p.Arg72Pro polymorphism of P53 and breast cancer risk: a meta-analysis of case-control studies

et al. 2020

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Background The effect of the p.Arg72Pro variant of the P53 gene on the risk of development ofbreast cancer remains variable in populations. However, the use ofstrategies such aspoolingage-matched controls with disease may provide a consistent meta-analysis. Our goal was to perform a meta-analysis in order to assess the association of p.Arg72Pro variant of P53 gene with the risk of breast cancer. Methods Databases such as PubMed, Genetics Medical Literature, Harvard University Library, Web of Science and Genesis Library were used to search articles. Case-control studies with age-matched on breast cancer havingevaluated the genotype frequencies of the TP53 p.Arg72Pro polymorphism were selected. The fixed and random effects (Mantel-Haenszel) were calculated using pooled odds ratio of 95% CI to determine the risk of disease. Inconsistency was calculated to determine heterogeneity among the studies. The publication bias was estimated using the funnel plot. Results Twenty-one publications with 7841 cases and 8876 controls were evaluated in this meta-analysis. Overall, our results suggested that TP53 p.Arg72Pro was associated with the risk of breast cancer for the dominant model (OR = 1.09, 95% CI = 1.02–1.16, P = 0.01) and the additive model (OR = 1.09, 95% CI = 1.01–1.17, P = 0.03), but not for the recessive model (OR = 1.07, 95% CI = 0.97–1.18, P = 0.19). According to the ethnic group analysis, Pro allele was associated with the risk of breast cancer in Caucasians for the dominant model and additive model (P = 0.02), and Africans for the recessive model and additive model (P = 0.03). Conclusions This meta-analysis found a significant association between TP53 p.Arg72Pro polymorphism and the risk of breast cancer. Individuals carrying at least one Pro allele were more likely to have breast cancer than individuals harboring the Arg allele.

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“…Genotype distribution of the control population that met HWE was a minimum requirement for studies to be retained for the metaanalysis. Out of the 21 studies (7841cases and8876 controls), eleven were Caucasians [12][13][14][21][22][23][24][25][26][27][28], nine were Asians [29][30][31][32][33][34][35][36][37] and one was African [38] (Table 1). Table 1.…”

Section: Resultsmentioning

confidence: 99%

p.Arg72Pro polymorphism of P53 and Breast Cancer Risk: A meta-analysis of case-control studies

Diakité

Kassogue

Dolo

et al. 2020

Preprint

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Background :The effect of the p.Arg72Pro variant of the P53 gene on the risk of developmentof breast cancer remains variable in populations. However, the use of strategiessuchas pooling age-matched controls with disease cases may provide a solid meta-analysis. Our goal was to perform a meta-analysis in order to assessthe association of p.Arg72Provariant of P53 gene with breast cancer risk. Methods : Databases such as PubMed, Genetics Medical Literature, Harvard University Library, Web of Science and Genesis Library were used to search articles. Age-matched case-control studies on breast cancer that have evaluated the genotype frequencies of the p.Arg72Pro of P53 gene were selected. The fixed and random effects (Mantel-Haenszel) were calculated using pooled odds ratio of 95% CI to determine the risk of disease. Inconsistency was calculated to determine heterogeneity among the studies. The publication bias was estimated using the funnel plot. Results : Twenty-one publications with cases age-matched controls including7841disease cases and 8876controls were evaluated in this meta-analysis. Overall, our results suggested that p.Arg72ProP53 was associated with a risk for breast cancer for the dominant model (OR= 1.09, 95% CI = 1.02-1.16; P= 0.01) and the additive model (OR= 1.09, 95% CI = 1.01-1.17; P= 0.03), but not in the recessive model (OR = 1.07, 95% CI = 0.97-1.16; P= 0.19). According to the ethnic group, allele Pro has been associated with breast cancer risk in Europeans for the dominant and additive models. Conclusions : This meta-analysis found a significant association between p.Arg72Pro in the P53 gene and the risk of breast cancer. Individuals carrying at least one Pro allele of the P53 gene are more likely to have breast cancer with dominant and additive models than individualsharboringthe Arg allele.

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The association of polymorphic markers Arg399Gln of XRCC1 gene, Arg72Pro of TP53 gene and T309G of MDM2 gene with breast cancer in Kyrgyz females

Cited by 13 publications

References 20 publications

Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes

Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes

p.Arg72Pro polymorphism of P53 and breast cancer risk: a meta-analysis of case-control studies

p.Arg72Pro polymorphism of P53 and Breast Cancer Risk: A meta-analysis of case-control studies

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