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

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

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

scholarly journals DNA repair genes are selectively mutated in diffuse large B cell lymphomas

2013 ◽  
Vol 210 (9) ◽  
pp. 1729-1742 ◽  
Author(s):  
Noel FCC de Miranda ◽  
Roujun Peng ◽  
Konstantinos Georgiou ◽  
Chenglin Wu ◽  
Elin Falk Sörqvist ◽  
...  
Keyword(s):  
Dna Repair ◽  
B Cell ◽  
Genomic Instability ◽  
Novel Mutation ◽  
B Cell Lymphoma ◽  
Germline Mutations ◽  
Dna Repair Genes ◽  
B Cell Lymphomas ◽  
Repair Genes ◽  
Large B Cell

DNA repair mechanisms are fundamental for B cell development, which relies on the somatic diversification of the immunoglobulin genes by V(D)J recombination, somatic hypermutation, and class switch recombination. Their failure is postulated to promote genomic instability and malignant transformation in B cells. By performing targeted sequencing of 73 key DNA repair genes in 29 B cell lymphoma samples, somatic and germline mutations were identified in various DNA repair pathways, mainly in diffuse large B cell lymphomas (DLBCLs). Mutations in mismatch repair genes (EXO1, MSH2, and MSH6) were associated with microsatellite instability, increased number of somatic insertions/deletions, and altered mutation signatures in tumors. Somatic mutations in nonhomologous end-joining (NHEJ) genes (DCLRE1C/ARTEMIS, PRKDC/DNA-PKcs, XRCC5/KU80, and XRCC6/KU70) were identified in four DLBCL tumors and cytogenetic analyses revealed that translocations involving the immunoglobulin-heavy chain locus occurred exclusively in NHEJ-mutated samples. The novel mutation targets, CHEK2 and PARP1, were further screened in expanded DLBCL cohorts, and somatic as well as novel and rare germline mutations were identified in 8 and 5% of analyzed tumors, respectively. By correlating defects in a subset of DNA damage response and repair genes with genomic instability events in tumors, we propose that these genes play a role in DLBCL lymphomagenesis.

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

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

Truncating variants in DNA-repair genes and their effect on AAO of hereditary breast cancer

2018 ◽  
Author(s):  
I Sepahi ◽  
U Faust ◽  
M Sturm ◽  
K Bosse ◽  
M Kehrer ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Repair ◽  
Hereditary Breast Cancer ◽  
Dna Repair Genes ◽  
Repair Genes
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