TP53 Polymorphisms in Sporadic North Indian Breast Cancer Patients

Sharma, Sanjiv; Sambyal, Vasudha; Guleria, Kamlesh; Manjari, Mridu; Sudan, Meena; Uppal, Manjit Singh; Singh, Neeti Rajan; Bansal, Dipika; Gupta, Arun Kumar

doi:10.7314/apjcp.2014.15.16.6871

Cited by 20 publications

(31 citation statements)

References 81 publications

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“…Another rare polymorphism within the DBD is R213R (rs1800372), which is caused by a synonymous A > G transition in exon 6. So far, these SNPs have not been associated with cancer risk (Ganci et al, 2011;Pilger et al, 2007;Sharma et al, 2014). Nevertheless, in the presence of secondary acquired mutations, these SNPs may affect cancer predisposition or aggressiveness.…”

Section: Models For Predicting Cancer Prevalence and Functional Impacmentioning

confidence: 97%

A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation

et al. 2018

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The TP53 gene is frequently mutated in human cancer. Research has focused predominantly on six major "hotspot" codons, which account for only ∼30% of cancer-associated p53 mutations. To comprehensively characterize the consequences of the p53 mutation spectrum, we created a synthetically designed library and measured the functional impact of ∼10,000 DNA-binding domain (DBD) p53 variants in human cells in culture and in vivo. Our results highlight the differential outcome of distinct p53 mutations in human patients and elucidate the selective pressure driving p53 conservation throughout evolution. Furthermore, while loss of anti-proliferative functionality largely correlates with the occurrence of cancer-associated p53 mutations, we observe that selective gain-of-function may further favor particular mutants in vivo. Finally, when combined with additional acquired p53 mutations, seemingly neutral TP53 SNPs may modulate phenotypic outcome and, presumably, tumor progression.

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Section: Models For Predicting Cancer Prevalence and Functional Impacmentioning

confidence: 97%

A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation

et al. 2018

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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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“…Indeed, this gene plays a signi cant role in the response to stress. The protein TP53, also called the genome guardian, is a transcription factor that controls the expression of many genes involved in cell cycle regulation, DNA repair, cell death and senescence [5][6][7][8]. The great heterogeneity reported in the TP53 in breast cancer may be linked to the geographic origin and ethnic differences of patients [8][9][10].…”

Section: Introductionmentioning

confidence: 99%

“…It is highly polymorphic both in exonic and intronic regions with more than 200 polymorphisms (http://www-p53.iarc.fr/). Of these, p.Arg72Pro, p.Pro47Ser and PIN3 16-bp duplication of TP53 are the most studied polymorphisms because of their critical roles in modifying the function and/or expression of TP53 [7,13]. Sequence changes in the coding region affected by 16 bp duplication of PIN3 may result in impaired function and expression of p53 [14].…”

Section: Introductionmentioning

confidence: 99%

Association of PIN3 16-bp Duplication Polymorphism of TP53 with Breast Cancer Risk in Mali and A Meta-analysis.

Diakité

Kassogue

Dolo

et al. 2020

Preprint

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Abstract Background. Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors, including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53. The aim of our study was to evaluate the role of the PIN3 16-bp duplication polymorphism in the susceptibility to breast cancer in the Malian population and to perform a meta-analysis to better understand the correlation with data from other populations.Methods. We analyzed the PIN3 16-bp duplication polymorphism in blood samples of 60 Malian women with breast cancer and 60 healthy Malian women using PCR. In addition, we performed a meta-analysis of case-control study data from international databases, including Pubmed, Harvard University Library, Genetics Medical Literature Database, Genesis Library and Web of Science. Overall, odds ratio (OR) with 95% CI from fixed and random effects models were determined. Inconsistency was used to assess heterogeneity between studies and publication bias was estimated using the funnel plot.Results. In the studied Malian patients, a significant association of PIN3 16-bp duplication polymorphism with breast cancer risk was observed in dominant (A1A2+A2A2 vs. A1A1: OR = 2.26, CI 95% = 1.08-4.73; P = 0.02) and additive (A2 vs. A1: OR =1.87, CI 95% = 1.05-3.33; P = 0.03) models, but not in the recessive model (P = 0.38). In the meta-analysis, nineteen (19) articles were included with a total of 6,018 disease cases and 4,456 controls. Except for the dominant model (P = 0.15), an increased risk of breast cancer was detected with the recessive (OR=1.46, 95% CI = 1.15-1.85; P = 0.002) and additive (OR = 1.11, 95% CI = 1.02-1.19; P = 0.01) models.Conclusion. The case-control study showed that PIN3 16-bp duplication polymorphism of TP53 is a significant risk factor for breast cancer in Malian women. These findings are supported by data from the meta-analysis carried out on different ethnic groups around the world.

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TP53 Polymorphisms in Sporadic North Indian Breast Cancer Patients

Abstract: The results of present study indicated that among the five TP53 polymorphisms investigated, the p.R72P polymorphism, and the RP-A1A1 and RP-GG genotype combination contribute to breast cancer susceptibility in North Indians.

Cited by 20 publications

References 81 publications

A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation

A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation

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

Association of PIN3 16-bp Duplication Polymorphism of TP53 with Breast Cancer Risk in Mali and A Meta-analysis.

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