scholarly journals Genetic Polymorphisms of DNA Repair Genes and DNA Repair Capacity Related to Aflatoxin B1 (AFB1)-Induced DNA Damages

10.5772/53967 ◽  
2013 ◽  
Author(s):  
Qiang Xia ◽  
Xiao-Ying Huang ◽  
Feng Xue ◽  
Jian-Jun Zhang ◽  
Bo Zhai ◽  
...  
Keyword(s):  
Dna Repair ◽  
Genetic Polymorphisms ◽  
Aflatoxin B1 ◽  
Dna Repair Genes ◽  
Repair Capacity ◽  
Dna Damages ◽  
Dna Repair Capacity ◽  
Repair Genes

-93G>A polymorphism of hMLH1 associated with prognosis for patients with colorectal cancer

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. 4039-4039
Author(s):  
J. Kim ◽  
Y. Chae ◽  
S. Sohn ◽  
B. Kang ◽  
S. Lee ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Dna Repair ◽  
Disease Free Survival ◽  
Stage Iv ◽  
Dna Repair Genes ◽  
Repair Capacity ◽  
Independent Prognostic Marker ◽  
Dna Repair Capacity ◽  
Pcr Rflp ◽  
Repair Genes

4039 Background: Polymorphisms in the DNA repair genes may contribute to variation in DNA repair capacity, thereby affecting the risk of carcinogenesis and prognosis of colorectal cancer. Accordingly, the present study analyzed polymorphisms of DNA repair genes and their impact on the prognosis for patients with colorectal cancer. Methods: Three hundred and ninety- seven consecutive patients with curatively resected colorectal adenocarcinoma were enrolled in the present study. The genomic DNA was extracted from fresh colorectal tissue and 14 polymorphisms of DNA repair genes (XRCC1, hMLH1, ERCC2, ERCC4, VARS2[rs2074511, rs2249459], XPA, XPC, POLR2A, POLR2B, RFC1, RFC4, XAB2, DNMT3B) determined using a PCR-RFLP assay. Results: The median age of the patients was 63 years (range, 21–85), and 218 (54.9%) patients had colon cancer and 179 (45.1%) patients rectal cancer. Pathologic stages after surgery were as follows: stage 0/I (n=86, 21.7%), stage II (n=146, 36.8%), stage III (n=145, 36.5%), and stage IV (n=20, 5.0%). Multivariate survival analysis including stage, differentiation, age, and CEA level showed that the survival for the patients with the -93AA genotype of hMLH1 was worse than for the patients with the combined -93GG and GA genotype (overall survival: hazard ratio [HR]=2.953, 95% Confidential Interval [CI], 1.273–6.850, P=0.012; disease-free survival: HR=2.299, 95% CI, 1.417–3.730, P=0.001), whereas the other polymorphisms were not associated with survival. Conclusions: The -93G>A polymorphism of hMLH1 was found to be an independent prognostic marker for patients with colorectal cancer. Accordingly, in addition to the pathologic stage, the analysis of -93G>A polymorphism of hMLH1 can help identify patient subgroups at high risk of a poor disease outcome. No significant financial relationships to disclose.

Genetic Polymorphisms in DNA Repair Genes XRCC4 and XRCC5 and Aflatoxin B1–related Hepatocellular Carcinoma

Epidemiology ◽  
2013 ◽  
Vol 24 (5) ◽  
pp. 671-681 ◽  
Author(s):  
Xi-Dai Long ◽  
Dong Zhao ◽  
Chao Wang ◽  
Xiao-Ying Huang ◽  
Jin-Guang Yao ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Dna Repair ◽  
Genetic Polymorphisms ◽  
Aflatoxin B1 ◽  
Dna Repair Genes ◽  
Repair Genes

Genetic manipulation in Sulfolobus islandicus and functional analysis of DNA repair genes

2013 ◽  
Vol 41 (1) ◽  
pp. 405-410 ◽  
Author(s):  
Changyi Zhang ◽  
Bin Tian ◽  
Suming Li ◽  
Xiang Ao ◽  
Kevin Dalgaard ◽  
...  
Keyword(s):  
Dna Repair ◽  
Genetic Manipulation ◽  
Excision Repair ◽  
Model Organism ◽  
Dna Repair Genes ◽  
Repair Capacity ◽  
Dna Repair Capacity ◽  
Sulfolobus Islandicus ◽  
Base Excision ◽  
Repair Genes

Recently, a novel gene-deletion method was developed for the crenarchaeal model Sulfolobus islandicus, which is a suitable tool for addressing gene essentiality in depth. Using this technique, we have investigated functions of putative DNA repair genes by constructing deletion mutants and studying their phenotype. We found that this archaeon may not encode a eukarya-type of NER (nucleotide excision repair) pathway because depleting each of the eukaryal NER homologues XPD, XPB and XPF did not impair the DNA repair capacity in their mutants. However, among seven homologous recombination proteins, including RadA, Hel308/Hjm, Rad50, Mre11, HerA, NurA and Hjc, only the Hjc nuclease is dispensable for cell viability. Sulfolobus encodes redundant BER (base excision repair) enzymes such as two uracil DNA glycosylases and two putative apurinic/apyrimidinic lyases, but inactivation of one of the redundant enzymes already impaired cell growth, highlighting their important roles in archaeal DNA repair. Systematically characterizing these mutants and generating mutants lacking two or more DNA repair genes will yield further insights into the genetic mechanisms of DNA repair in this model organism.

The genotype distribution of the XRCC1gene indicates a role for base excision repair in the development of therapy-related acute myeloblastic leukemia

Blood ◽  
2002 ◽  
Vol 100 (10) ◽  
pp. 3761-3766 ◽  
Author(s):  
Claire Seedhouse ◽  
Rowena Bainton ◽  
Michael Lewis ◽  
Alexander Harding ◽  
Nigel Russell ◽  
...  
Keyword(s):  
Dna Repair ◽  
Protective Effect ◽  
Excision Repair ◽  
Acute Myeloblastic Leukemia ◽  
Polymorphism Analysis ◽  
Genotype Distribution ◽  
Dna Repair Genes ◽  
Repair Capacity ◽  
Dna Repair Capacity ◽  
Repair Genes

Polymorphisms in several DNA repair genes have been described. These polymorphisms may affect DNA repair capacity and modulate cancer susceptibility by means of gene-environment interactions. We investigated DNA repair capacity and its association with acute myeloblastic leukemia (AML). We studied polymorphisms in 3 DNA repair genes: XRCC1, XRCC3, and XPD. We also assessed the incidence of a functional polymorphism in theNQO1 gene, which is involved in protection of cells from oxidative damage. We genotyped the polymorphisms by using polymerase chain reaction–restriction fragment-length polymorphism analysis in 134 patients with de novo AML, 34 with therapy-related AML (t-AML), and 178 controls. The distributions of theXRCC3 Thr241Met and NQO1 Pro187Ser genotypes were not significantly different in patients and controls. However, the distribution of the XRCC1 Arg399Gln genotypes was significantly different when comparing the t-AML and control groups (χ2, P = .03). The presence of at least oneXRCC1 399Gln allele indicated a protective effect for the allele in controls compared with patients with t-AML (odds ratio 0.44; 95% confidence interval, 0.20-0.93). We found no interactions between the XRCC1 or XRCC3 and NQO1genotypes. We also found no differences in the distribution of the XPD Lys751Gln or XRCC1 Arg194Trp genotypes. Our data provide evidence of a protective effect against AML in individuals with at least one copy of the variant XRCC1 399Gln allele compared with those homozygous for the common allele.

DNA repair capacity after γ-irradiation and expression profiles of DNA repair genes in resting and proliferating human peripheral blood lymphocytes

DNA Repair ◽  
2002 ◽  
Vol 1 (3) ◽  
pp. 237-250 ◽  
Author(s):  
Claudia Mayer ◽  
Odilia Popanda ◽  
Otto Zelezny ◽  
Marie-Charlotte von Brevern ◽  
Alfred Bach ◽  
...  
Keyword(s):  
Dna Repair ◽  
Human Peripheral Blood ◽  
Expression Profiles ◽  
Peripheral Blood Lymphocytes ◽  
Dna Repair Genes ◽  
Γ Irradiation ◽  
Repair Capacity ◽  
Dna Repair Capacity ◽  
Human Peripheral Blood Lymphocytes ◽  
Repair Genes

Genetic polymorphisms in DNA repair genes and hepatocellular carcinoma risk

DNA Repair ◽  
2021 ◽  
pp. 103196
Author(s):  
Hossein Ghaderi-Zefrehi ◽  
Maryam Rezaei ◽  
Farzin Sadeghi ◽  
Mohammad Heiat
Keyword(s):  
Hepatocellular Carcinoma ◽  
Dna Repair ◽  
Genetic Polymorphisms ◽  
Dna Repair Genes ◽  
Repair Genes ◽  
Carcinoma Risk

scholarly journals Occupational radiation exposure and genetic polymorphisms in DNA repair genes

2017 ◽  
Vol 52 (4) ◽  
pp. 241-249 ◽  
Author(s):  
F. Zakeri ◽  
M.R. Farshidpour ◽  
M.R. Rajabpour
Keyword(s):  
Dna Repair ◽  
Radiation Exposure ◽  
Genetic Polymorphisms ◽  
Dna Repair Genes ◽  
Occupational Radiation Exposure ◽  
Repair Genes ◽  
Occupational Radiation

Polymorphisms of DNA-repair genes associated with clinical outcome in metastatic breast cancer (MBC) patients treated with gemcitabine/cisplatin (GC) (California Cancer Consortium)

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 675-675
Author(s):  
M. A. Gordon ◽  
W. Zhang ◽  
D. Yang ◽  
D. Spicer ◽  
J. Doroshow ◽  
...  
Keyword(s):  
Overall Survival ◽  
Dna Repair ◽  
Clinical Outcome ◽  
Tumor Progression ◽  
Tumor Response ◽  
Dna Repair Genes ◽  
Repair Capacity ◽  
Repair Enzymes ◽  
Repair Genes ◽  
Time To Tumor Progression

675 Background: DNA repair enzymes may play an important role in determining efficacy of chemotherapy in MBC. In particular, GC combination therapy may be dependent on activity of DNA repair enzymes in host cells, since cisplatin acts by inducing DNA damage. Cancer cells with increased DNA repair capacity may be resistant to GC, and specific genes may be responsible for this increased repair capacity. We examined whether polymorphisms in genes related to DNA repair were associated with clinical outcome in MBC patients treated with GC, enrolled in a parent phase II clinical trial (Ph II-14 A & B). Methods: Fifty-five patients with MBC were evaluated. Patients received the following regimen: 25 mg/m2 cisplatin on days 1–4; 1000 mg/m2 gemcitabine on days 2 and 8 of 21-day cycle. Thirteen polymorphisms in 10 cancer-related genes were tested for association with overall survival, time to tumor progression, and tumor response using a PCR RFLP based assay. Results: Of 55 patients evaluated, there were 17 responders (31%) and 33 non-responders (60%). Five patients (9%) inevaluable for response. Of 33 non-responders, 15 had stable disease, 18 had progressive disease. Median survival: 11.7 months with median follow-up 32.4 months for 4 patients alive at time of analysis. Median progression-free survival: 4.2 months. XPD Lys751Gln polymorphism was associated with overall survival and time to tumor progression (p=0.0003, p=0.006, respectively, log-rank test). Thirty-five patients carried Lys/Lys genotype, of which 29% resopnded. Fourteen patients carried Lys/Gln genotype, of which 54% resopnded. Five patients carried Gln/Gln genotype, with no responders. XRCC3 Thr241Met polymorphism was associated with time to tumor progression and tumor response (p=0.03, p=0.002, respectively). Eighteen patients had Met/Met genotype, of which 47% responded. Twenty-six patients had heterozygous genotype, of which 17% responded. Five patients had homozygous Thr/Thr, of which 100% responded. Conclusions: Our results suggest that polymorphisms in DNA repair genes XPD and XRCC3 may be important markers in predicting clinical outcome in MBC patients treated with GC. Supported by the following NCI grant: N01 CM1701. [Table: see text]

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