Analysis of the R72P polymorphism of the TP53 gene in patients with invasive ductal breast carcinoma

Leistner-Segal,

doi:10.3892/mmr_00000174

Cited by 4 publications

(1 citation statement)

References 35 publications

(63 reference statements)

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“…Because R72P affects the transactivation domain, it may lead to alteration of the protein expression. It can also influence both the transcriptional activity and the structure of the protein due to the localization in a hydrophobic zone of the affected codon [17]. In our study, the rs1042522 polymorphic variation was identified with homozygous GG genotype in 59.09% (13/22) of the samples, and with the heterozygous CG genotype in 40.9% (9/22) of the samples.…”

Section: Figure 13 -A Short Segment Of a Telopode (Tp) Embedded Into A Collagenous Matrix (Red Asterisks) From The Tumor Stroma Inside Ofmentioning

confidence: 48%

Analysis of TP53 gene and particular infrastructural alterations in invasive ductal mammary carcinoma

Mihalcea

Moroşanu

Murăraşu

et al. 2020

Rom J Morphol Embryol

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This study was conducted in order to determine the mutational status of TP53 gene and to determine some particular aspects from ultrastructural level in invasive mammary ductal carcinoma. The cellular signaling pathway involving the TP53 gene acts in biological deoxyribonucleic acid (DNA) repair processes and cell cycle arrest following a signal transmitted to the p53 protein when posttranslational changes occur in the cell due to stress induced in the cell by both intrinsic and extrinsic factors. Cellular stress activates the transcription factor function of the protein that initiates, as the case may be, either DNA repair or programmed cell death (apoptosis). The TP53 gene is commonly mutated in many human cancers and also has a highly polymorphic grade. To determine the mutational status of the exons 4–9 of the TP53 gene, we used extracted DNA from fresh breast tissue, and we analyzed it through direct sequencing. In mammary carcinoma, the mutation frequency of TP53 is running between 20–40% and, in regards the polymorphism, at least 14 different forms were identified, that are associated with cancer risk. The mutation type distribution showed a predominance of deletions and a reduced frequency of substitutions comparing with International Agency for Research on Cancer (IARC) database. Taken in consideration the importance of the tumor associated stroma in tumor development, we have also investigated some particular aspects at the infrastructural level of invasive mammary ductal carcinoma, notably concerning telocytes as tumor stroma interstitial cells by transmission electron microscopy analysis.

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Section: Figure 13 -A Short Segment Of a Telopode (Tp) Embedded Into A Collagenous Matrix (Red Asterisks) From The Tumor Stroma Inside Ofmentioning

confidence: 48%

Analysis of TP53 gene and particular infrastructural alterations in invasive ductal mammary carcinoma

Mihalcea

Moroşanu

Murăraşu

et al. 2020

Rom J Morphol Embryol

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Gene-Environment Interaction between Arg72Pro SNP and Selected Environmental Exposures among Brazilian Women Diagnosed with Benign Breast Disease

Costa

Koifman

Esteves

et al. 2020

Asian Pac J Cancer Prev

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Background: Benign breast disease (BBD) is a factor strongly associated with breast cancer worldwide. Arg72Pro SNP association with breast cancer is controversial due to the suggestion that environmental factors are required to modulate such risk. There are no studies evaluating these environmental interactions of the aforementioned SNP within BBD. Aim: To determine the frequency of SNP Arg72Pro in a cohort of women diagnosed with BBD; and to investigate gene-environmental interactions with environmental factors. Results: The genotype frequency was 44.6% for Arg/Pro, 39.3% for Arg/Arg genotype, and 16.3% for Pro/Pro homozygote. Gene-environment interaction analysis shows that when Arg/Arg is considered as reference, there is an ORinteraction with Arg/Pro and fabric exposure (OR=1.90;95%CI:1.04,3.48), solvents (OR=2.21;95%CI:1.01,4.83) and chlorine, bleaches, disinfectants, and liquid wax exposure (OR=2.52;95%CI:1.07,5.91). Analysis with Pro/Pro genotype as the reference showed an interaction between alcohol consumption and recessive model (OR=1.58;95%CI:1.00,2.51). Gene-environmental interactions were observed too between exposure to hair dyes, straighteners or relaxers and Arg/Arg (OR=3.26;95%CI:1.21,8.82). Conclusion: The Arg/Pro genotype was the most frequent in the BBD cohort. When compared with the Arg/Arg genotype, the presence of Arg/Pro genotype and solvents, fabric and cleaning products exposure increased the risk of BBD. When compared with Pro/Pro genotype, there were interactions between recessive model with alcohol consumption and exposure to hair products on the risk of BBD.

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TP53 Arg72Pro Genetic Polymorphism and Young Women with Breast Cancer: Case-Control Study in Brazil

Santos

Costa

Diniz

et al. 2023

Rev. Bras. Cancerol.

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Introduction: Breast cancer is the most common cancer in women and incidence and mortality rates are increasing among young women worldwide, including Brazil. TP53 Arg72Pro polymorphism (rs1042522) has been associated with breast cancer, due to its important role in cell cycle that impacts the development of cancer. Objective: To determine the magnitude of the association between TP53 Arg72Pro polymorphism and breast cancer development in young Brazilian women. Method: Hospital-based case-control study conducted in Rio de Janeiro with 268 confirmed breast cancer cases and 277 controls with women enrolled among hospitalized patients without neoplastic diseases or their companions at three public hospitals. Results: The genotype frequency was 46.57% for Arg/Pro, 35.74% for Arg/Arg, and 17.69% for Pro/Pro among healthy controls and 41.04% for Arg/Pro, 46.64% for Arg/Arg, and 12.31% for Pro/Pro among breast cancer cases. The genotypes Pro/Pro (OR=0.46; 95% CI=0.27-0.80, in comparison with Arg/Arg genotype) and Pro allele in dominant model (OR=0.65; 95% CI=0.45-0.92, in comparison with Arg/Arg genotype) were statistically associated with a protective effect for breast cancer among young Brazilian women. Also, family history of breast or ovary cancer (OR=2.18; 95% CI=1.37-3.46) and tobacco use (OR=1.74; 95% CI=1.14-2.68) were statistically associated with breast cancer. Conclusion: Further studies are necessary to confirm that Arg72Pro polymorphism can be a protective factor for breast cancer development among young women, since ethnicity can influence genotypes frequencies and the risk of developing breast cancer.

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Analysis of the R72P polymorphism of the TP53 gene in patients with invasive ductal breast carcinoma

Cited by 4 publications

References 35 publications

Analysis of TP53 gene and particular infrastructural alterations in invasive ductal mammary carcinoma

Analysis of TP53 gene and particular infrastructural alterations in invasive ductal mammary carcinoma

Gene-Environment Interaction between Arg72Pro SNP and Selected Environmental Exposures among Brazilian Women Diagnosed with Benign Breast Disease

TP53 Arg72Pro Genetic Polymorphism and Young Women with Breast Cancer: Case-Control Study in Brazil

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