Association of p53 Codon 72 Polymorphism with Breast Cancer in a Rwandese Population

Habyarimana, Thierry; Attaleb, Mohammed; Mugenzi, Pacifique; Mazarati, Jean Baptiste; Bakri, Youssef; Mzibri, Mohammed El

doi:10.1159/000481664

Cited by 10 publications

(12 citation statements)

References 42 publications

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“…These results are in line with those reported in Caucasian patients where polymorphism at the same locus seemed to increase risk of BC among premenopausal women [62]. However, some studies have suggested that there is no association between the rs1042522 variant and the development of BC in Africa, whatever the menopausal status [19] [47]. The discrepancies between association studies involving this SNP could be explained by the genetic variability of the African population made up of various ethno-linguistic groups characterized by a diversity of genetic background [21] [62].…”

Section: Discussionsupporting

confidence: 91%

“…Armitage trend test. These results are in line with those reported elsewhere in Africa where, whatever the menopausal status, no association was reported between polymorphism at rs1042522 of TP53 and the risk of BC development[19] [48]. However, it is important to point out that the allele frequencies were not in HWE at this locus when the entire population was analyzed.…”

supporting

confidence: 91%

“…However, other SNPs that have shown some associations with cancer development remain to be investigated in sub-Saharan African countries. For instance, the SNP (rs1042522) in codon 72 of TP53 has shown no associated with breast cancer in Rwandese Population [19]. However, for the same SNP, other studies reported its association with the risk of developing several cancers including breast cancer [20]; thus highlighting its potential role in the development of breast cancer in other populations.…”

Section: Introductionmentioning

confidence: 99%

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Association between Polymorphisms of SNPs Located at the 3’-Untranslated Region of SET8 and Codon 72 of the TP53 with Breast Cancer among Cameroonian Women

Tiofack¹,

Ofon²,

Bell³

et al. 2020

JBM

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In sub-Saharan Africa, breast cancer (BC) constitutes a serious public health problem and the genetic basis of its development is remaining poorly understood. Although the SNPs at codon 72 of TP53 (rs1042522) and at the UTR of SET8 (rs16917496) have both been associated with BC development among Asian and European women, no published data has been reported within African population. We herein report on the impact of these polymorphisms on the risk of BC among Cameroonian women. Blood samples were collected from 111 breast cancer patients and 224 controls. DNA was extracted from each sample and PCR-RFLP was used to investigate the polymorphisms at SNPs rs1042522 of TP53 and rs16917496 of SET8. Association studies were performed according to ethno-linguistic groups and menopausal status. The minor allele "T" of SET8 gene revealed a protective effect in premenopausal women (OR, 0.327; 95% CI 0.125-0.852) while the CT genotype of SET8 was associated with increased risk of BC (OR, 2.93; 95% CI, 1.1-7.8). The minor "G" allele of TP53 gene was significantly associated (OR, 2.533; 95% CI, 1.455-4.408) with increased disease risk in premenopausal women while the CG genotype was significantly associated (OR, 0.39; 95% CI, 0.23-0.69) with decreased risk of BC. A synergistic genetic interaction at both loci for CC genotype of SET8 and CG genotype of TP53 was associated (OR, 0.46

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Section: Discussionsupporting

confidence: 91%

supporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

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Association between Polymorphisms of SNPs Located at the 3’-Untranslated Region of SET8 and Codon 72 of the TP53 with Breast Cancer among Cameroonian Women

Tiofack¹,

Ofon²,

Bell³

et al. 2020

JBM

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“…These different results with diverging conclusions can be explained by a very strong heterogeneity in allele and genotype distribution of p.Arg72Pro of the P53 gene. This heterogeneity may be related not only to the geographic and ethnic origin [ 15 – 17 ] but also to the study design such as non-age-matched case-control studies. Based on these above observations, we hypothesized that the p.Arg72Pro polymorphism of P53 gene may represent a potentially important genetic marker, contributing to breast cancer susceptibility in Caucasian, Asians and Africans.…”

Section: Introductionmentioning

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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“…These different results with diverging conclusions can be explained by a very strong heterogeneity in allele and genotype distribution of p.Arg72Pro of the P53 gene. This heterogeneity may be related not only to the geographic and ethnic origin [15][16][17] but also to the study design such as non-age-matched case-control studies. Based on these above observations, we hypothesized that the p.Arg72Pro polymorphism of P53 gene may represent a potentially important genetic marker, contributing to breast cancer susceptibility in Caucasian, Asians and Africans.…”

Section: Introductionmentioning

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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Association of p53 Codon 72 Polymorphism with Breast Cancer in a Rwandese Population

Cited by 10 publications

References 42 publications

Association between Polymorphisms of SNPs Located at the 3’-Untranslated Region of SET8 and Codon 72 of the TP53 with Breast Cancer among Cameroonian Women

Association between Polymorphisms of SNPs Located at the 3’-Untranslated Region of SET8 and Codon 72 of the TP53 with Breast Cancer among Cameroonian Women

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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