Prevalence of TP53 gene Pro72Arg (rs1042522) single nucleotide polymorphism among Egyptian breast cancer patients
Abstract Background The P53 protein has an essential role in several cellular processes, including DNA repair, apoptosis, and cell cycle arrest. The pathophysiology of many cancer types has frequently been linked to polymorphisms in the TP53 locus. Over 200 single nucleotide polymorphisms (SNPs) hav...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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SpringerOpen
2023-03-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Online Access: | https://doi.org/10.1186/s43042-023-00405-1 |
| _version_ | 1797864469195390976 |
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| author | Shaza Ahmed Gehan Safwat Mohamed M. Moneer AbdelWahab El Ghareeb Ahmed A. El Sherif Samah A. Loutfy |
| author_facet | Shaza Ahmed Gehan Safwat Mohamed M. Moneer AbdelWahab El Ghareeb Ahmed A. El Sherif Samah A. Loutfy |
| author_sort | Shaza Ahmed |
| collection | DOAJ |
| description | Abstract Background The P53 protein has an essential role in several cellular processes, including DNA repair, apoptosis, and cell cycle arrest. The pathophysiology of many cancer types has frequently been linked to polymorphisms in the TP53 locus. Over 200 single nucleotide polymorphisms (SNPs) have been identified in TP53. However, Pro72Arg (rs1042522) at codon 72, shows contradictory results in terms of cancer risk. In this study, we aimed to determine if the Pro72Arg (rs1042522) SNP in the TP53 gene would be linked to breast cancer (BC) risk among Egyptian patients. Materials and Methods Genomic DNA was extracted from blood samples of 100 healthy volunteers and 100 breast cancer patients (50 familial and 50 non-familial). TP53 Genotyping was performed using tetra-primer amplification refractory mutation (Tetra-ARMS) PCR. Data were analyzed using SNPstat software. Results The prevalence of TP53 (Pro72Arg) rs1042522 genotypes carrying the high-risk allele [Pro/Arg (CG) and Arg/Arg (GG)] were significantly higher in BC patients compared to healthy volunteers and were associated with BC susceptibility (OR 0.2; [95% CI 0.11–0.38]; P = 0.0001). However, there was no statistical significant difference in the prevalence of TP53 (Pro72Arg) rs1042522 genotypes carrying the high-risk allele between familial and non-familial BC patients. In addition, there was no association between the prevalence of TP53 (Pro72Arg) rs1042522 genotypes carrying the high-risk allele and BC patients’ clinical and pathological characteristics including tumor size, tumor grade, lymph node status, presence of lymphovascular invasion, expression of ER, PR and Her-2 in both of familial and non-familial BC patients. Conclusions TP53 (Pro72Arg) rs1042522 is more prevalent among BC patients but not associated with disease progression. |
| first_indexed | 2024-04-09T22:53:31Z |
| format | Article |
| id | doaj.art-0d63fe3cca3f4386884d341da57c441e |
| institution | Directory Open Access Journal |
| issn | 2090-2441 |
| language | English |
| last_indexed | 2024-04-09T22:53:31Z |
| publishDate | 2023-03-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj.art-0d63fe3cca3f4386884d341da57c441e2023-03-22T11:31:12ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412023-03-012411710.1186/s43042-023-00405-1Prevalence of TP53 gene Pro72Arg (rs1042522) single nucleotide polymorphism among Egyptian breast cancer patientsShaza Ahmed0Gehan Safwat1Mohamed M. Moneer2AbdelWahab El Ghareeb3Ahmed A. El Sherif4Samah A. Loutfy5Faculty of Biotechnology, October University for Modern Sciences and ArtsFaculty of Biotechnology, October University for Modern Sciences and ArtsSurgical Oncology Department, Mataria Teaching HospitalZoology Department, Faculty of Science, Cairo UniversityChemistry Department, Faculty of Science, Cairo UniversityVirology and Immunology Unit, Cancer Biology Department, National Cancer Institute (NCI), Cairo UniversityAbstract Background The P53 protein has an essential role in several cellular processes, including DNA repair, apoptosis, and cell cycle arrest. The pathophysiology of many cancer types has frequently been linked to polymorphisms in the TP53 locus. Over 200 single nucleotide polymorphisms (SNPs) have been identified in TP53. However, Pro72Arg (rs1042522) at codon 72, shows contradictory results in terms of cancer risk. In this study, we aimed to determine if the Pro72Arg (rs1042522) SNP in the TP53 gene would be linked to breast cancer (BC) risk among Egyptian patients. Materials and Methods Genomic DNA was extracted from blood samples of 100 healthy volunteers and 100 breast cancer patients (50 familial and 50 non-familial). TP53 Genotyping was performed using tetra-primer amplification refractory mutation (Tetra-ARMS) PCR. Data were analyzed using SNPstat software. Results The prevalence of TP53 (Pro72Arg) rs1042522 genotypes carrying the high-risk allele [Pro/Arg (CG) and Arg/Arg (GG)] were significantly higher in BC patients compared to healthy volunteers and were associated with BC susceptibility (OR 0.2; [95% CI 0.11–0.38]; P = 0.0001). However, there was no statistical significant difference in the prevalence of TP53 (Pro72Arg) rs1042522 genotypes carrying the high-risk allele between familial and non-familial BC patients. In addition, there was no association between the prevalence of TP53 (Pro72Arg) rs1042522 genotypes carrying the high-risk allele and BC patients’ clinical and pathological characteristics including tumor size, tumor grade, lymph node status, presence of lymphovascular invasion, expression of ER, PR and Her-2 in both of familial and non-familial BC patients. Conclusions TP53 (Pro72Arg) rs1042522 is more prevalent among BC patients but not associated with disease progression.https://doi.org/10.1186/s43042-023-00405-1 |
| spellingShingle | Shaza Ahmed Gehan Safwat Mohamed M. Moneer AbdelWahab El Ghareeb Ahmed A. El Sherif Samah A. Loutfy Prevalence of TP53 gene Pro72Arg (rs1042522) single nucleotide polymorphism among Egyptian breast cancer patients Egyptian Journal of Medical Human Genetics |
| title | Prevalence of TP53 gene Pro72Arg (rs1042522) single nucleotide polymorphism among Egyptian breast cancer patients |
| title_full | Prevalence of TP53 gene Pro72Arg (rs1042522) single nucleotide polymorphism among Egyptian breast cancer patients |
| title_fullStr | Prevalence of TP53 gene Pro72Arg (rs1042522) single nucleotide polymorphism among Egyptian breast cancer patients |
| title_full_unstemmed | Prevalence of TP53 gene Pro72Arg (rs1042522) single nucleotide polymorphism among Egyptian breast cancer patients |
| title_short | Prevalence of TP53 gene Pro72Arg (rs1042522) single nucleotide polymorphism among Egyptian breast cancer patients |
| title_sort | prevalence of tp53 gene pro72arg rs1042522 single nucleotide polymorphism among egyptian breast cancer patients |
| url | https://doi.org/10.1186/s43042-023-00405-1 |
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