A novel mutation in <i>CEBPA</i> gene in a patient with acute myeloid leukemia

Vinhas, Raquel; Tolmatcheva, Anna; Canto, Rafaela; Ribeiro, Patrícia Lisbôa Izetti; Lourenço, Alexandra; Sousa, Aïda Botelho de; Baptista, Pedro V.; Fernandes, Alexandra R.

doi:10.3109/10428194.2015.1065979

Cited by 2 publications

(4 citation statements)

References 19 publications

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“…This protein is a transcription factor and it is act as a tumor suppressor, which means that it is involved in cellular mechanisms that help prevent the cells from growing and dividing too rapidly or in an uncontrolled way and that is the principle of cancer (AML). (23,65) We also achieved analysis by Mutation3D server, All SNPs in red (R288P, N292S and N292T) are clustered mutation. Significantly, such mutation clusters are frequently associated with human cancers.…”

Section: Discussionmentioning

confidence: 99%

“…(16)(17)(18) nevertheless, different mutations have been documented. (19)(20)(21)(22)(23))Some studies has been reported which claimed some related factors besides CEBPα mutation, such as Smoking, alcohol and exposure to solvents and agrochemicals may causes AML , (24)(25)(26) but no evidence of publication bias. Other genes have been reported which cause AML such as FLT3-ITD and NMP1 which helped refine individual prognosis.…”

Section: Introductionmentioning

confidence: 99%

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In Silico Genetics Revealing Novel Mutations inCEBPAGene Associated with Acute Myeloid Leukemia

Mustafa¹,

Ns³

et al. 2019

Preprint

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Background: Myelodysplastic syndrome/Acute myeloid leukemia (MDS/AML) is a highly heterogeneous malignant disease; affects children and adults of all ages. AML is one of the main causes of death in children with cancer. However, It is the most common acute leukemia in adults, with a frequency of over 20 000 cases per year in the United States of America alone. Methods: The SNPs were retrieved from the dbSNP database. this SNPs were submitted into various functional analysis tools that done by SIFT, PolyPhen-2, PROVEAN, SNAP2, SNPs&GO, PhD-SNP and PANTHER, while structural analysis were done by I-mutant3 and MUPro. The most damaging SNPs were selected for further analysis by Mutation3D, Project hope, ConSurf and BioEdit softwares. Results: A total of five novel nsSNPs out of 248 missense mutations were predicted to be responsible for the structural and functional variations of CEBPA protein. Conclusion: In this study the impact of functional SNPs in the CEBPA gene was investigated through different computational methods, which determined that (R339W, R288P, N292S N292T and D63N) are novel SNPs have a potential functional effect and can thus be used as diagnostic markers and may facilitate in genetic studies with a special consideration of the large heterogeneity of AML among the different populations.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

In Silico Genetics Revealing Novel Mutations inCEBPAGene Associated with Acute Myeloid Leukemia

Mustafa¹,

Ns³

et al. 2019

Preprint

View full text Add to dashboard Cite

show abstract

“…It’s a transcription factor (TF) and its performance is a malignant suppressor, which means it is complicated in cellular mechanisms and could help to prevent the cells from developing and dividing too swiftly or in an uncontrolled mode and that is the principle of cancer. 24,72 We also achieved analysis by Mutation3D server, all SNPs in red (R288P, N292S, and N292T) are clustered mutation, significantly, such mutation clusters are commonly associated with human cancers, 73 whereas SNPs in blue (R339W) and gray (D63N) are covered and uncovered mutations, respectively (Figure 3).…”

Section: Discussionmentioning

confidence: 99%

“…[10][11][12][13][14] The CEBPA is a transcription element that affects immune cell density and diversity. 15,16 Most patients with AML who have CEBPA alterations simultaneously transport double mutations, [17][18][19] nevertheless, different mutations have been reported [20][21][22][23][24] ; some studies have been reported which claimed some related factors besides CEBPA mutation, such as smoking, alcohol, and exposure to solvents and agrochemicals may cause AML, [25][26][27] but no evidence of publication bias. Other genes have been reported which cause AML such as fms-related tyrosine kinase 3 (FLT3-ITD) and nucleophosmin 1 (NMP1), which assisted to improve person diagnosis; furthermore, these mutant molecules characterize as a potential target for molecular therapies.…”

Section: Introductionmentioning

confidence: 99%

In Silico Genetics Revealing 5 Mutations in CEBPA Gene Associated With Acute Myeloid Leukemia

et al. 2019

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Background: Acute myeloid leukemia (AML) is an extremely heterogeneous malignant disorder; AML has been reported as one of the main causes of death in children. The objective of this work was to classify the most deleterious mutation in CCAAT/enhancer-binding protein-alpha ( CEBPA) and to predict their influence on the functional, structural, and expression levels by various Bioinformatics analysis tools. Methods: The single nucleotide polymorphisms (SNPs) were claimed from the National Center for Biotechnology Information (NCBI) database and then submitted into various functional analysis tools, which were done to predict the influence of each SNP, followed by structural analysis of modeled protein followed by predicting the mutation effect on energy stability; the most damaging mutations were chosen for additional investigation by Mutation3D, Project hope, ConSurf, BioEdit, and UCSF Chimera tools. Results: A total of 5 mutations out of 248 were likely to be responsible for the structural and functional variations in CEBPA protein, whereas in the 3′-untranslated region (3′-UTR) the result showed that among 350 SNPs in the 3′-UTR of CEBPA gene, about 11 SNPs were predicted. Among these 11 SNPs, 65 alleles disrupted a conserved miRNA site and 22 derived alleles created a new site of miRNA. Conclusions: In this study, the impact of functional mutations in the CEBPA gene was investigated through different bioinformatics analysis techniques, which determined that R339W, R288P, N292S, N292T, and D63N are pathogenic mutations that have a possible functional and structural influence, therefore, could be used as genetic biomarkers and may assist in genetic studies with a special consideration of the large heterogeneity of AML.

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A novel mutation in CEBPA gene in a patient with acute myeloid leukemia

Cited by 2 publications

References 19 publications

In Silico Genetics Revealing Novel Mutations inCEBPAGene Associated with Acute Myeloid Leukemia

In Silico Genetics Revealing Novel Mutations inCEBPAGene Associated with Acute Myeloid Leukemia

In Silico Genetics Revealing 5 Mutations in CEBPA Gene Associated With Acute Myeloid Leukemia

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