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) 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.

Association of Chromosome 17 Aneuploidy, TP53 Deletion, Expression and Its rs1042522 Variant with Multiple Myeloma Risk and Response to Thalidomide/Bortezomib Treatment

“…The meta-analysis by Zhang and colleagues showed no statistically significant association between genotypes of rs1042522 and colorectal cancer risk [40]. Ahmed and coworkers in their research, conducted in the Egyptian population, showed that the R allele was more prevalent among breast cancer patients compared to the control group and that it was not associated with disease progression [41]. Data from Basabaeen et al suggested that the PP genotype contributed to an increased risk of chronic B lymphocytic leukemia in the Sudanese population ten times more than the RR genotype [42].…”

Polymorphism of TP53 (rs1042522) gene and peculiarities of the immune profile in children exposed to airborne benzo(a)pyrene

“…Известно, что изолированное воздействие бенз(а)пирена, а также сочетанное воздействие бенз(а)пирена и вакцинного антигена SARS-CoV-2 в эксперименте in vitro активирует экспрессию гена TP53 (rs1042522) в случае гетерозиготного варианта гена CG и, напротив, угнетает его экспрессию у GG-гомозигот [18]. Кроме того, вариантный GG-генотип гена TP53 (rs1042522) может быть ассоциирован с повышенным риском развития онкопролиферативных процессов [19,20], что особенно важно учитывать в условиях внешнесредового воздействия бенз(а)пирена как вещества с проканцерогенными характеристиками.…”