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 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

scholarly journals Differential expression of thymic DNA repair genes in low-dose-rate irradiated AKR/J mice

2013 ◽  
Vol 14 (3) ◽  
pp. 271 ◽  
Author(s):  
Jin Jong Bong ◽  
Yu Mi Kang ◽  
Suk Chul Shin ◽  
Seung Jin Choi ◽  
Kyung Mi Lee ◽  
...  
Keyword(s):  
Dna Repair ◽  
Dose Rate ◽  
Differential Expression ◽  
Low Dose ◽  
Dna Repair Genes ◽  
Low Dose Rate ◽  
Repair Genes

scholarly journals Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer

2018 ◽  
Vol 2 (4) ◽  
Author(s):  
Ming Ren Toh ◽  
Jian Bang Chiang ◽  
Siao Ting Chong ◽  
Sock Hoai Chan ◽  
Nur Diana Binte Ishak ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Dna Repair ◽  
Homologous Recombination ◽  
Cancer Predisposition ◽  
Colorectal Cancers ◽  
Dna Repair Genes ◽  
Young Onset ◽  
Pathogenic Variants ◽  
Predisposition Genes ◽  
Repair Genes

Abstract Background Growing evidence suggests a role for cancer susceptibility genes such as BRCA2 and PALB2 in young-onset colorectal cancers. Using a cohort of young colorectal cancer patients, we sought to identify and provide functional evidence for germline pathogenic variants of DNA repair genes not typically associated with colorectal cancer. Methods We recruited 88 patients with young-onset colorectal cancers seen at a general oncology center. Whole-exome sequencing was performed to identify variants in DNA repair and colorectal cancer predisposition genes. Pathogenic BRCA2 and PALB2 variants were analyzed using immunoblot and immunofluorescence on patient-derived lymphoblastoid cells. Results In general, our cohort displayed characteristic features of young-onset colorectal cancers. Most patients had left-sided tumors and were diagnosed at late stages. Four patients had familial adenomatous polyposis, as well as pathogenic APC variants. We identified 12 pathogenic variants evenly distributed between DNA repair and colorectal cancer predisposition genes. Six patients had pathogenic variants in colorectal cancer genes: APC (n = 4) and MUTYH monoallelic (n = 2). Another six had pathogenic variants in DNA repair genes: ATM (n = 1), BRCA2 (n = 1), PALB2 (n = 1), NTHL1 (n = 1), and WRN (n = 2). Pathogenic variants BRCA2 c.9154C>T and PALB2 c.1059delA showed deficient homologous recombination repair, evident from the impaired RAD51 nuclear localization and foci formation. Conclusion A substantial portion of pathogenic variants in young-onset colorectal cancer was found in DNA repair genes not previously associated with colorectal cancer. This may have implications for the management of patients. Further studies are needed to ascertain the enrichment of pathogenic DNA repair gene variants in colorectal cancers.

Homologous recombination deficiency (HRD) in patients with pancreatic cancer (PC) and response to chemotherapy.

2017 ◽  
Vol 35 (4_suppl) ◽  
pp. 317-317 ◽  
Author(s):  
Safi Shahda ◽  
Kirsten Timms ◽  
Ashley Ibrahim ◽  
Julia E. Reid ◽  
Harvey M Cramer ◽  
...  
Keyword(s):  
Dna Repair ◽  
Homologous Recombination ◽  
Locally Advanced ◽  
Response To Therapy ◽  
Dna Repair Genes ◽  
Repair Gene ◽  
Dna Repair Gene ◽  
Response To Chemotherapy ◽  
Mutation Data ◽  
Repair Genes

317 Background: Mutations or copy number abnormalities of genes involved in homologous recombination occur in PC. DNA-based measures of HRD have been developed and may help identify tumors with better response to DNA damaging agents. This study aimed to describe the mutation and HRD status of PC and determine their association with treatment response and outcome. Methods: This was a retrospective analysis of tumor samples from patients treated at Indiana University for locally advanced or metastatic PC. Patients were included if they received gemcitabine/nab-paclitaxel or FOLFIRINOX and had adequate follow up to assess survival and response to therapy. Tumor analysis generated a 3-biomarker (LOH, TAI, LST) HRD score and mutation data for 45 genes. Results: Ninety-one samples met inclusion criteria, 78 (15 FFPE and 63 FNA) generated mutation data. HRD analysis was successful for 57; the primary cause of failure low tumor %. The final analysis set consisted of 78 samples with mutation status, including 57 with HRD scores (range= 5 -61 (median=18,)). Six BRCA1/ 2 mutations were detected, 5 had high HRD scores, with 4 in the top decile (p=0.011). Other DNA repair gene mutations ( ATM=3, ATR=1, BRIP1=1 and FANCI=1) were detected, but most retained one functional allele and were not associated with HRD score. There was no statistically significant correlation between HRD score and response to FOLFIRINOX (OR per interquartile range = 1.40, p=0.32 adjusted for treatment). HRD score was not associated with PFS or OS. For FOLFIRINOX, median survival times for low vs. high HRD (dichotomized at the median) were 5.3 vs. 9.4 months PFS (p=0.049) and OS 12.3 vs. 11.3 months (p=0.89). For gemcitabine/nab-paclitaxel, mPFS was 6.1 vs. 4.6 months (p=0.88), and mOS was 14.4 vs. 11.4 months (p=0.29). Conclusions: Mutations in DNA repair genes occur in PC, and HRD scores can be generated in the majority of cases. HRD score was not significantly associated with higher response rate or prolonged survival in relation to FOLFIRINOX in this small non-randomized retrospective cohort. Larger studies to examine the association of mutations in DNA repair genes and HRD may be needed to detect significant associations.

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 Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes

2017 ◽  
Vol 8 (1) ◽  
Author(s):  
Nadeem Riaz ◽  
Pedro Blecua ◽  
Raymond S. Lim ◽  
Ronglai Shen ◽  
Daniel S. Higginson ◽  
...  
Keyword(s):  
Dna Repair ◽  
Homologous Recombination ◽  
Dna Repair Genes ◽  
Repair Genes ◽  
Pan Cancer

Microarray-Based Analysis of Differential Expression of DNA Repair Genes During Spermatogenesis in the Mouse.

2010 ◽  
Vol 83 (Suppl_1) ◽  
pp. 499-499
Author(s):  
Dipanwita Roy Choudhury ◽  
Eric de Waal ◽  
Chris Small ◽  
Michael D. Griswold ◽  
Christi A. Walter ◽  
...  
Keyword(s):  
Dna Repair ◽  
Differential Expression ◽  
Dna Repair Genes ◽  
Repair Genes

scholarly journals Bi-allelic alterations in DNA repair genes underpin homologous recombination DNA repair defects in breast cancer

2017 ◽  
Vol 242 (2) ◽  
pp. 165-177 ◽  
Author(s):  
Robert W Mutter ◽  
Nadeem Riaz ◽  
Charlotte KY Ng ◽  
Rob Delsite ◽  
Salvatore Piscuoglio ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Repair ◽  
Homologous Recombination ◽  
Dna Repair Genes ◽  
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
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