Mutational analysis of TP53 gene in Tunisian familial hematological malignancies and sporadic acute leukemia cases

Hamadou, Walid Sabri; Besbes, Sawsen; Bourdon, Violaine; Youssef, Yosra Ben; Laatiri, Mohamed Adnène; Noguchi, T; Khélif, Abderrahim; Sobol, Hagay; Soua, Zohra

doi:10.1007/s10689-016-9931-3

Cited by 9 publications

(4 citation statements)

References 23 publications

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“…As shown in Table 5, the GA genotype represents risk factor (OR, 3.5; CI, 1.5-8.12; p=0.002), the AA genotype represents risk factor (OR,5.7;CI,p=0.005), and the allele A represent risk factor (OR, 3.1;CI,p=0.0001). In this study, it has been demonstrated, according to qPCR results that the rs1642785 SNP was found in the examined sample; therefore, this SNP can be considered a risk factor for acute myeloid leukemia, which is consistent with the findings of other researchers 23 , who indicated that there was an association between rs1642785 and AML risk. Several studies investigated the relationship between rs1642785 genotypes and cancer.…”

Section: Mutantsupporting

confidence: 92%

The Association between Single Nucleotide Polymorphisms rs1042522 and rs1642785 in the TP53 gene and Acute Myeloid leukemia in a sample of the Baghdad/ Iraq population

Dawood,

Mohammed

2024

Baghdad Sci.J

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Acute myeloid leukemia (AML) represents the most prevalent type of acute leukemia in adults and is responsible for approximately 80% of all cases. The tumor suppressor gene (TP53) is a gene that has been frequently studied in cancer, and mutations in this gene account for about 50% of human cancers. This study aims to evaluate the correlation between two single nucleotide polymorphisms (SNPs) in the gene: rs1042522 and rs1642785, and a group of Iraqi patients suffering from pre-diagnostic acute myeloid leukemia (AML). Blood samples were collected from sixty patients (26 males and 34 females) and sixty controls (26 males and 34 females); these subjects were matched in gender, age, and ethnicity. Genomic DNA has been extracted from whole frozen blood samples by using the Easy Pure® Blood Genomic Kit, and then the purity and concentration have been measured by using the Nano drop NAS-99 spectrophotometer. Nano Drop readings ranged between 7-55ng/µl for the concentration and between 1.78-1.9 for the purity. High resolution melt (HRM) real-time PCR was used in the detection of these two SNPs. TP53 genotype frequencies have been in accordance with Hardy–Weinberg equilibrium (HWE), with statistically significant differences p≤0.05 between the genotypes of the control and patient groups. The rs1042522 genotype frequency was significantly different between patients and controls p = 0.0001, and participants with the GA genotype were more likely to develop AML OR = 7.8, 95% CI 3.2–18.4, p= 0.0001. In addition, the genotype frequency of rs1642785 was significantly different between patients and controls p = 0.002, and participants with the GA genotype were more likely to develop AML OR = 3.5, 95% CI 1.5–8.12, p = 0.002.

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Section: Mutantsupporting

confidence: 92%

The Association between Single Nucleotide Polymorphisms rs1042522 and rs1642785 in the TP53 gene and Acute Myeloid leukemia in a sample of the Baghdad/ Iraq population

Dawood,

Mohammed

2024

Baghdad Sci.J

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“…Its pattern and geographical spread are similar to that of malaria and ancient human migration on the continent ( 387 – 392 ). This aggressive pediatric B-cell non-Hodgkin lymphoma is caused by the EBV, which induces genomic instability in the B-cell that results in hyperproliferation ( 393 , 394 ) and it is associated with unique TP53 mutations that are clustered between codons 213 to 248 ( 395 – 397 ).…”

Section: Resultsmentioning

confidence: 99%

A Review of Cancer Genetics and Genomics Studies in Africa

Rotimi

Salhia

2021

Front. Oncol.

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Cancer is the second leading cause of death globally and is projected to overtake infectious disease as the leading cause of mortality in Africa within the next two decades. Cancer is a group of genomic diseases that presents with intra- and inter-population unique phenotypes, with Black populations having the burden of morbidity and mortality for most types. At large, the prevention and treatment of cancers have been propelled by the understanding of the genetic make-up of the disease of mostly non-African populations. By the same token, there is a wide knowledge gap in understanding the underlying genetic causes of, and genomic alterations associated with, cancer among black Africans. Accordingly, we performed a review of the literature to survey existing studies on cancer genetics/genomics and curated findings pertaining to publications across multiple cancer types conducted on African populations. We used PubMed MeSH terms to retrieve the relevant publications from 1990 to December 2019. The metadata of these publications were extracted using R text mining packages: RISmed and Pubmed.mineR. The data showed that only 0.329% of cancer publications globally were on Africa, and only 0.016% were on cancer genetics/genomics from Africa. Although the most prevalent cancers in Africa are cancers of the breast, cervix, uterus, and prostate, publications representing breast, colorectal, liver, and blood cancers were the most frequent in our review. The most frequently reported cancer genes were BRCA1, BRCA2, and TP53. Next, the genes reported in the reviewed publications’ abstracts were extracted and annotated into three gene ontology classes. Genes in the cellular component class were mostly associated with cell part and organelle part, while those in biological process and molecular function classes were mainly associated with cell process, biological regulation, and binding, and catalytic activity, respectively. Overall, this review highlights the paucity of research on cancer genomics on African populations, identified gaps, and discussed the need for concerted efforts to encourage more research on cancer genomics in Africa.

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“…The TP53 gene encodes p53 protein, which plays a central role in the arrest of cell cycle and apoptosis following DNA damage [26,27]. At present, over 200 SNPs in TP53 have been identified (http://www-p53.iarc.fr/).…”

Section: Discussionmentioning

confidence: 99%

Association of lipoprotein lipase expression with TP53 gene polymorphisms in chronic lymphocytic leukemia cells

et al. 2023

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Summary. Background: Expression of lipoprotein lipase (LPL) correlates with unmutated (UM) status of the variable region of the heavy chain of immunoglobulin (IGHV) genes, but the expression level of LPL in UM chronic lymphocytic leukemia (CLL) cases varies significantly. Aim: To study the association of LPL expression with the genetic variants of the TP53 gene since both genes are involved in lipid metabolism. Materials and Methods: Expression of LPL mRNA was measured in peripheral blood mononuclears of 45 CLL patients with UM IGHV genes by real-time quantitative reverse transcription polymerase chain reaction. Mutational status of IGHV genes and TP53 genotyping (rs1042522, rs1642785, rs17883323, rs2909430, rs145153611, rs113530090, rs12947788, rs12951053, and rs17878362) were performed by polymerase chain reaction amplification followed by direct sequencing. Results: Observed CLL patients were divided on groups with low (11.17 ± 2.66) and high (275.48 ± 39.37) LPL expression. In CLL patients with UM IGHV genes and low LPL expression we found an increased frequency of rs1042522 G (p = 0.0036), rs1642785 C (p = 0.0001), and rs17878362A2 alleles (p = 0.0091). The possible functional significance of these changes is discussed. Conclusion: Some polymorphic variants of TP53 may be genetic modifiers for LPL expression level in CLL leukemic B-cells. Further research is required in a larger cohort to confirm these findings.

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Mutational analysis of TP53 gene in Tunisian familial hematological malignancies and sporadic acute leukemia cases

Cited by 9 publications

References 23 publications

The Association between Single Nucleotide Polymorphisms rs1042522 and rs1642785 in the TP53 gene and Acute Myeloid leukemia in a sample of the Baghdad/ Iraq population

The Association between Single Nucleotide Polymorphisms rs1042522 and rs1642785 in the TP53 gene and Acute Myeloid leukemia in a sample of the Baghdad/ Iraq population

A Review of Cancer Genetics and Genomics Studies in Africa

Association of lipoprotein lipase expression with TP53 gene polymorphisms in chronic lymphocytic leukemia cells

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