scholarly journals Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic Syndrome

2021 ◽  
Author(s):  
Daniela de Paula Borges ◽  
Rinna Maria Arruda Rodrigues dos Santos ◽  
Elvira Rodrigues Pereira Velloso ◽  
Howard Lopes Ribeiro ◽  
Irene Beatriz Larripa ◽  
...  
Keyword(s):  
Dna Repair ◽  
Latin America ◽  
Myelodysplastic Syndrome ◽  
Dna Repair Genes ◽  
Functional Polymorphisms ◽  
Repair Genes

scholarly journals Influence of functional polymorphisms in DNA repair genes of myelodysplastic syndrome

2016 ◽  
Vol 48 ◽  
pp. 62-72 ◽  
Author(s):  
Howard Lopes Ribeiro ◽  
Allan Rodrigo Soares Maia ◽  
Marília Braga Costa ◽  
Izabelle Rocha Farias ◽  
Daniela de Paula Borges ◽  
...  
Keyword(s):  
Dna Repair ◽  
Myelodysplastic Syndrome ◽  
Dna Repair Genes ◽  
Functional Polymorphisms ◽  
Repair Genes

scholarly journals New polymorphisms of Xeroderma Pigmentosum DNA repair genes in myelodysplastic syndrome

2017 ◽  
Vol 58 ◽  
pp. 73-82 ◽  
Author(s):  
Sabrina Pinheiro Santiago ◽  
Howard Lopes Ribeiro Junior ◽  
Juliana Cordeiro de Sousa ◽  
Daniela de Paula Borges ◽  
Roberta Taiane Germano de Oliveira ◽  
...  
Keyword(s):  
Dna Repair ◽  
Myelodysplastic Syndrome ◽  
Xeroderma Pigmentosum ◽  
Dna Repair Genes ◽  
Repair Genes

Expression of DNA repair genes is important molecular findings in CD34 +  stem cells of myelodysplastic syndrome

2017 ◽  
Vol 100 (1) ◽  
pp. 108-109 ◽  
Author(s):  
Howard Lopes Ribeiro ◽  
Allan Rodrigo Soares Maia ◽  
Roberta Taiane Germano de Oliveira ◽  
Antônio Wesley Araújo dos Santos ◽  
Marília Braga Costa ◽  
...  
Keyword(s):  
Stem Cells ◽  
Dna Repair ◽  
Myelodysplastic Syndrome ◽  
Dna Repair Genes ◽  
Repair Genes

scholarly journals Functional Polymorphisms in DNA Repair Genes Are Associated with Sporadic Colorectal Cancer Susceptibility and Clinical Outcome

2018 ◽  
Vol 20 (1) ◽  
pp. 97 ◽  
Author(s):  
Katerina Jiraskova ◽  
David Hughes ◽  
Stefanie Brezina ◽  
Tanja Gumpenberger ◽  
Veronika Veskrnova ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Dna Repair ◽  
Clinical Outcome ◽  
Candidate Gene Approach ◽  
Sporadic Colorectal Cancer ◽  
Dna Repair Genes ◽  
Single Nucleotide ◽  
Functional Polymorphisms ◽  
Repair Pathways ◽  
Repair Genes

DNA repair processes are involved in both the onset and treatment efficacy of colorectal cancer (CRC). A change of a single nucleotide causing an amino acid substitution in the corresponding protein may alter the efficiency of DNA repair, thus modifying the CRC susceptibility and clinical outcome. We performed a candidate gene approach in order to analyze the association of non-synonymous single nucleotide polymorphisms (nsSNPs) in the genes covering the main DNA repair pathways with CRC risk and clinical outcome modifications. Our candidate polymorphisms were selected according to the foremost genomic and functional prediction databases. Sixteen nsSNPs in 12 DNA repair genes were evaluated in cohorts from the Czech Republic and Austria. Apart from the tumor-node-metastasis (TNM) stage, which occurred as the main prognostic factor in all of the performed analyses, we observed several significant associations of different nsSNPs with survival and clinical outcomes in both cohorts. However, only some of the genes (REV3L, POLQ, and NEIL3) were prominently defined as prediction factors in the classification and regression tree analysis; therefore, the study suggests their association for patient survival. In summary, we provide observational and bioinformatics evidence that even subtle alterations in specific proteins of the DNA repair pathways may contribute to CRC susceptibility and clinical outcome.

Differential expression of homologous recombination DNA repair genes in the early and advanced stages of myelodysplastic syndrome

2017 ◽  
Vol 99 (4) ◽  
pp. 323-331 ◽  
Author(s):  
Jan Valka ◽  
Jitka Vesela ◽  
Hana Votavova ◽  
Michaela Dostalova-Merkerova ◽  
Zuzana Horakova ◽  
...  
Keyword(s):  
Dna Repair ◽  
Homologous Recombination ◽  
Myelodysplastic Syndrome ◽  
Differential Expression ◽  
Dna Repair Genes ◽  
Advanced Stages ◽  
Repair Genes

Genetic Variant Screening of DNA Repair Genes in Myelodysplastic Syndrome Identifies a Novel Mutation in the XRCC2 Gene

2019 ◽  
Vol 42 (5) ◽  
pp. 263-268
Author(s):  
Jan Valka ◽  
Jitka Vesela ◽  
Hana Votavova ◽  
Michaela Dostalova-Merkerova ◽  
Zuzana Urbanova ◽  
...  
Keyword(s):  
Dna Repair ◽  
Myelodysplastic Syndrome ◽  
Genetic Variant ◽  
Novel Mutation ◽  
Dna Repair Genes ◽  
Repair Genes

MiRNA-binding site functional polymorphisms in DNA repair genes RAD51, RAD52, and XRCC2 and breast cancer risk in Chinese population

Tumor Biology ◽  
2016 ◽  
Vol 37 (12) ◽  
pp. 16039-16051 ◽  
Author(s):  
Jingjing Cao ◽  
Chenglin Luo ◽  
Rui Peng ◽  
Qiaoyun Guo ◽  
Kaijuan Wang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Repair ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Binding Site ◽  
Chinese Population ◽  
Mirna Binding Site ◽  
Dna Repair Genes ◽  
Functional Polymorphisms ◽  
Repair Genes

Polymorphisms of DNA repair genes are related to the pathogenesis of myelodysplastic syndrome

2014 ◽  
Vol 33 (4) ◽  
pp. 220-228 ◽  
Author(s):  
Howard Lopes Ribeiro ◽  
Roberta Taiane Germano de Oliveira ◽  
Allan Rodrigo Soares Maia ◽  
Luiz Ivando Pires Ferreira Filho ◽  
Juliana Cordeiro de Sousa ◽  
...  
Keyword(s):  
Dna Repair ◽  
Myelodysplastic Syndrome ◽  
Dna Repair Genes ◽  
Repair Genes
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