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.

Details

Title
Prevalence of TP53 gene Pro72Arg (rs1042522) single nucleotide polymorphism among Egyptian breast cancer patients
Author
Ahmed, Shaza 1   VIAFID ORCID Logo  ; Safwat, Gehan 2 ; Moneer, Mohamed M. 3 ; El Ghareeb, AbdelWahab 4 ; El Sherif, Ahmed A. 5 ; Loutfy, Samah A. 6 

1  October University for Modern Sciences and Arts, Faculty of Biotechnology, Giza, Egypt (GRID:grid.442760.3) (ISNI:0000 0004 0377 4079); National Cancer Institute (NCI), Cairo University, Virology and Immunology Unit, Cancer Biology Department, Giza, Egypt (GRID:grid.7776.1) (ISNI:0000 0004 0639 9286) 
2  October University for Modern Sciences and Arts, Faculty of Biotechnology, Giza, Egypt (GRID:grid.442760.3) (ISNI:0000 0004 0377 4079) 
3  Mataria Teaching Hospital, Surgical Oncology Department, Cairo, Egypt (GRID:grid.442760.3) 
4  Cairo University, Zoology Department, Faculty of Science, Giza, Egypt (GRID:grid.7776.1) (ISNI:0000 0004 0639 9286) 
5  Cairo University, Chemistry Department, Faculty of Science, Giza, Egypt (GRID:grid.7776.1) (ISNI:0000 0004 0639 9286) 
6  National Cancer Institute (NCI), Cairo University, Virology and Immunology Unit, Cancer Biology Department, Giza, Egypt (GRID:grid.7776.1) (ISNI:0000 0004 0639 9286); British University in Egypt (BUE), Nanotechnology Research Center, Cairo, Egypt (GRID:grid.440862.c) (ISNI:0000 0004 0377 5514) 
Pages
24
Publication year
2023
Publication date
Dec 2023
Publisher
Springer Nature B.V.
ISSN
11108630
e-ISSN
20902441
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1186/s43042-023-00405-1
ProQuest document ID
2786747390
Copyright
© The Author(s) 2023. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.