TP53 mutations and Arg72Pro polymorphism in breast cancers

Denisov, Evgeny V.; Чердынцева, Н. В.; Litvyakov, N. V.; Slonimskaya, Е. М.; Malinovskaya, Elena; Воевода, М. И.; Belyavskaya, V. A.; Stegniy, V. N.

doi:10.1016/j.cancergencyto.2009.03.014

“…The frequencies of TP53 Arg72Pro genotypes (Arg/Arg, Arg/Pro, Pro/Pro) in the group of cancer patients were 55%, 38% and 7%, respectively. The TP53 polymorphism in the study group was within the Hardy–Weinberg equilibrium ( P > 0.05) and the allele distributions were in agreement with those found in other Caucasian populations 8–10.…”

Section: Resultssupporting

confidence: 87%

“…The data together show that the Arg variant of the TP53 gene may contribute to human cancer development and progression due to its association with chromosomal abnormalities. Previously, we have shown association of the retention of the Arg allele in breast cancer tumors with regional lymph node metastasis 8. The possible mechanism of these may consist in high frequency of chromosome aberrations in metastatic tumor cells with the Arg/Arg genotype.…”

Section: Resultsmentioning

confidence: 95%

Interstitial deletion of 18q: Comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33)

Kato

¹

,

Morimoto

²

,

Kimura

³

et al. 2009

Birth Defects Research

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The deletion of the transcription factor 4 gene suggested a possible contribution of the deletion to the patient's facial abnormalities, as observed in Pitt-Hopkins syndrome. Together with other reported cases with interstitial deletion of 18q, a possible contribution of haploinsufficiency in both MBD1 and MBD2 genes to a Rett syndrome-like phenotype was suggested, but further genetic studies on other cases are necessary to clarify the genotype-phenotype correlation.

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“…1) that investigated the association of p.Arg72Pro of P53 gene in the context of breast cancer were included, of which only 55 studies had a genotype distribution of control population that met Hardy-Weinberg equilibrium, and 21 out of the 55 studies have cases age-matched controls (Table 1). Among these studies, the participants of 9 studies were Europeans [12][13][14][21][22][23][24][25][26], 9 studies were Asians [27-35], 2 were Americans [36,37]. Genotype distribution of the control population that met Hardy-Weinberg equilibrium was a minimum requirement for studies to be included.…”

Section: Resultsmentioning

confidence: 99%

TP53 p.Arg72Pro polymorphism and Breast Cancer Risk: A meta-analysis of case-control studies

Diakité¹,

Kassogue²,

Dolo³

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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“…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

¹

,

Kassogue

²

,

Dolo

³

et al. 2020

Preprint

0

View full text Add to dashboard Cite

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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TP53 mutations and Arg72Pro polymorphism in breast cancers

Cited by 17 publications

References 11 publications

Interstitial deletion of 18q: Comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33)

Interstitial deletion of 18q: Comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33)

TP53 p.Arg72Pro polymorphism 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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