TP53 codon 72 polymorphism in pigmentary phenotypes

Costa, Kassandra Silva Falcão; Guillo, Lidia Andreu

doi:10.1007/s12038-012-9183-9

Cited by 6 publications

(2 citation statements)

References 27 publications

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“…These findings are not in line with a recent study of TP53 polymorphism among 96 individuals [36] from a Brazilian population where was found a high prevalence of Arginine allele (68%) showing a contrast to our study where Arginine allele frequency was 38% (19 of 50). However, we did not find an association between p53 genotype and breast cancer development.…”

Section: Discussioncontrasting

confidence: 99%

Assessment of changes in the brca2 and p53 genes in breast invasive ductal carcinoma in northeast Brazil

et al. 2014

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BackgroundBRCA protein interacts with at least 13 different proteins that have been implicated with cancer susceptibility and loss of BRCA function is correlated to sensitivity to DNA crosslinking agents in preclinical models.ResultsBRCA2 methylation frequency was 44%, p53 Pro22 allele frequency was 32% and heterozygous frequency of Arg/Pro72 genotype was 60% which could be associated as risk factor for metastasis (p = 0.046 OR = 4.190). Regarding to polymorphism of codon 249 the frequency of Arg249 allele presented 82% which was considered not statistically significant.ConclusionsThere was not statistical significance to BRCA2 promoter methylation with any parameters chosen. However, our findings suggest that patients who present heterozygous genotype at codon 72 of p53 gene may have a major susceptibility to any type of metastasis and this could serve as potential auxiliary biomarker for poor prognosis.

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Section: Discussioncontrasting

confidence: 99%

Assessment of changes in the brca2 and p53 genes in breast invasive ductal carcinoma in northeast Brazil

et al. 2014

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“…The aforementioned polymorphism, which is the most widely studied polymorphism of TP53, refers to a G to C transversion in exon 4 at codon 72 and results in the three following genotypes: Arginine/Arginine (Arg/Arg), Arginine/Proline (Arg/Pro) and Proline/Proline (Pro/Pro). It has been shown that the Arg allele (major allele) predominates over the Pro allele (13). TP53 is a tumor suppressor protein that is responsible for the maintenance of genome stability and is considered to weaken the migration of cancer cells (14).…”

Section: Introductionmentioning

confidence: 99%

Role of CXCL12, TP53 and CYP1A1 gene polymorphisms in susceptibility to pediatric acute lymphoblastic leukemia

et al. 2021

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Acute lymphoblastic leukemia (ALL) is the most common type of childhood leukemia and represents one third of all pediatric malignancies. Epidemiological studies have shown that various genetic factors play a crucial role in leukemogenesis. Recent genetic association studies on cancer risk have focused on the effects of single-nucleotide polymorphisms (SNPs) in genes that regulate inflammation and tumor suppression, such as chemokines, TP53 and cytochrome P450s (CYPs). Genetic polymorphisms in the 3' untranslated region of the C-X-C motif chemokine ligand 12 (CXCL12; rs1801157) and TP53 (rs1042522) genes have been suggested to influence the risk of ALL in children, while other studies have indicated an association between the CYP1 subfamily A member 1 (CYP1A1) * 2C (rs1048943) allele and leukemia risk. The aim of the present study was to investigate the possible association of rs1801157 (CXCL12), rs1042522 (TP53) and rs1048943 (CYP1A1 * 2C) SNPs with an increased susceptibility of developing ALL. These SNPs were analyzed in 86 children or adolescent patients with ALL and 125 control subjects by PCR-restriction fragment length polymorphism and allelic-specific chain reaction techniques. A higher frequency of CYP1A1 * 2C heterozygotes and TP53 rare homozygotes, which include the proline (Pro)/Pro genotype, was observed among children with ALL and control subjects, whereas no significant differences were observed for the CXCL12 SNP. Furthermore, the analysis of various allelic combinations of the aforementioned gene polymorphisms demonstrated a markedly increased risk of developing ALL in children. In conclusion, the present study demonstrated that there was a strong association between CYP1A1 * 2C heterozygotes, as well as the TP53 Pro/Pro genotype, and an increased susceptibility for pediatric ALL in Caucasians.

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CXCL12 and TP53 genetic polymorphisms as markers of susceptibility in a Brazilian children population with acute lymphoblastic leukemia (ALL)

et al. 2013

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Acute lymphoblastic leukemia (ALL) is the most common pediatric malignancy. Genetic polymorphisms in the 3'UTR region of the CXCL12 (rs1801157) and TP53 codon 72 (rs1042522) genes may contribute to susceptibility to childhood ALL because they affect some important processes, such as metastasis regulation and tumor suppression. Thus the objective of the present study was to detect the frequency of two genetic polymorphisms in ALL patients and controls and to add information their impact on genetic susceptibility and prognosis. The CXCL12 and TP53 polymorphisms were tested in 54 ALL child patients and in 58 controls by restriction fragment length polymerase chain reaction and allelic specific chain reaction techniques, respectively. The frequencies of both allelic variants were higher in ALL patients than in the controls and indicated a positive association: OR = 2.44; 95 % CI 1.05-5.64 for CXCL12 and OR = 2.20; 95 % CI 1.03-4.70 for TP53. Furthermore, when the two genetic variants were analyzed together, they increased significantly more than fivefold the risk of this neoplasia development (OR = 5.24; 95 % CI 1.39-19.75), indicating their potential as susceptibility markers for ALL disease and the relevance of the allelic variant combination to increased risk of developing malignant tumors. Future studies may indicate a larger panel of genes involved in susceptibility of childhood ALL and other hematological neoplasias.

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TP53 codon 72 polymorphism in pigmentary phenotypes

Cited by 6 publications

References 27 publications

Assessment of changes in the brca2 and p53 genes in breast invasive ductal carcinoma in northeast Brazil

Assessment of changes in the brca2 and p53 genes in breast invasive ductal carcinoma in northeast Brazil

Role of CXCL12, TP53 and CYP1A1 gene polymorphisms in susceptibility to pediatric acute lymphoblastic leukemia

CXCL12 and TP53 genetic polymorphisms as markers of susceptibility in a Brazilian children population with acute lymphoblastic leukemia (ALL)

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