scholarly journals Examination of RAD51 gene G135C polymorphism in gastric cancer patients in northeastern Anatolia

2019 ◽  
Vol 71 (2) ◽  
pp. 209-213
Author(s):  
Ilhami Gok ◽  
Ozkan Ozden
Keyword(s):  
Gastric Cancer ◽  
Dna Repair ◽  
Cancer Patients ◽  
Repair Gene ◽  
Repair Capacity ◽  
Dna Repair Capacity ◽  
Rad51 Gene ◽  
Genotype Frequencies ◽  
Increased Risk ◽  
Gastric Cancer Patients

Polymorphisms of DNA repair and genome integrity genes are associated with DNA repair capacity and elevated cancer risk. To establish an association between the pattern of polymorphism and the incidence of any type of cancer, studies across different populations are required. Polymorphic regions have been identified in the RAD51 repair gene in various cancer types; however, the influence of specific genetic variants on gastric cancer prevalence has not been empirically demonstrated. We conducted a case-control study with 76 gastric cancer patients and 78 healthy individuals from northeastern Anatolia to examine the association between polymorphism and gastric cancer. We genotyped the previously identified G135C polymorphism of RAD51 in all individuals and estimated the allele and genotype frequencies in the two groups. Our results indicated that the two groups differed both in allele and genotype frequencies. Additionally, a significant and elevated odd ratio (3.53) of gastric cancer for the C allele of RAD51 was observed. The genotypes GC and CC had also significant and high odd ratios (>3.75). Our results indicate that G135C polymorphism of the RAD51 gene was associated with an increased risk of gastric cancer in the examined population.

scholarly journals DNA Repair Gene Polymorphism and the Risk of Mitral Chordae Tendineae Rupture

2015 ◽  
Vol 2015 ◽  
pp. 1-6
Author(s):  
Aysel Kalayci Yigin ◽  
Mehmet Bulent Vatan ◽  
Ramazan Akdemir ◽  
Muhammed Necati Murat Aksoy ◽  
Mehmet Akif Cakar ◽  
...  
Keyword(s):  
Dna Repair ◽  
Fragment Length Polymorphism ◽  
Control Group ◽  
Chordae Tendineae ◽  
Repair Gene ◽  
Repair Capacity ◽  
Dna Repair Capacity ◽  
Dna Repair Gene ◽  
Increased Risk ◽  
Polymerase Chain

Polymorphisms in Lys939Gln XPC gene may diminish DNA repair capacity, eventually increasing the risk of carcinogenesis. The aim of the present study was to evaluate the significance of polymorphism Lys939Gln in XPC gene in patients with mitral chordae tendinea rupture (MCTR). Twenty-one patients with MCTR and thirty-seven age and sex matched controls were enrolled in the study. Genotyping of XPC gene Lys939Gln polymorphism was carried out using polymerase chain reaction- (PCR-) restriction fragment length polymorphism (RFLP). The frequencies of the heterozygote genotype (Lys/Gln-AC) and homozygote genotype (Gln/Gln-CC) were significantly different in MCTR as compared to control group, respectively (52.4% versus 43.2%,p=0.049; 38.15% versus 16.2%,p=0.018). Homozygote variant (Gln/Gln) genotype was significantly associated with increased risk of MCTR (OR = 2.059; 95% CI: 1.097–3.863;p=0.018). Heterozygote variant (Lys/Gln) genotype was also highly significantly associated with increased risk of MCTR (OR = 1.489; 95% CI: 1.041–2.129;p=0.049). The variant allele C was found to be significantly associated with MCTR (OR = 1.481; 95% CI: 1.101–1.992;p=0.011). This study has demonstrated the association of XPC gene Lys939Gln polymorphism with MCTR, which is significantly associated with increased risk of MCTR.

scholarly journals The Clinicopathological Features and Genetic Mutations in Gastric Cancer Patients According to EMAST and MSI Status

Cancers ◽  
2020 ◽  
Vol 12 (3) ◽  
pp. 551
Author(s):  
Wen-Liang Fang ◽  
Ming-Huang Chen ◽  
Kuo-Hung Huang ◽  
Shih-Ching Chang ◽  
Chien-Hsing Lin ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Dna Repair ◽  
Survival Rate ◽  
Cancer Patients ◽  
Clinicopathological Features ◽  
Akt Pathway ◽  
Genetic Mutations ◽  
Tetranucleotide Repeats ◽  
Gastric Cancer Patients ◽  
T Category

Background: There has been no report regarding the clinicopathological features and genetic mutations regarding elevated microsatellite alterations at selected tetranucleotide repeats (EMAST) in gastric cancer (GC). Methods: The correlation among EMAST status, microsatellite instability (MSI) status, mutations of common GC-related genes and 16 DNA repair-associated genes, and the clinicopathological features were analyzed. Results: Among the 360 GC patients enrolled, there were 76 (21.1%) with EMAST+ tumors and 284 with EMAST− tumors, and 59 (16.4%) were MSI-high (MSI-H) tumors, and 301 were microsatellite stable (MSS) tumors. Patients with EMAST+ tumors exhibited an earlier pathological T category and had more genetic mutations in the PI3K/AKT pathway, ARID1A and DNA repair-associated genes than those with EMAST− tumors. Patients with MSI-H tumors have more genetic mutations in the PI3K/AKT pathway and DNA repair-associated genes than those with MSS tumors. In the subgroup analysis for MSI-H GC, EMAST+ tumors were associated with earlier pathological T and N categories, earlier TNM stages, higher frequency of DNA-repair-associated genetic mutations, and a better survival rate than EMAST− tumors. Conclusions: PI3K/AKT pathway mutations may play an important role in EMAST+ and/or MSI-H GC. EMAST+/MSI-H tumors seem to represent a different subtype of gastric cancer from EMAST−/MSI-H tumors.

DNA repair capacity and acute radiotherapy adverse effects in Italian breast cancer patients

2010 ◽  
Vol 684 (1-2) ◽  
pp. 43-48 ◽  
Author(s):  
Silvia Sterpone ◽  
Tommaso Cornetta ◽  
Luca Padua ◽  
Valeria Mastellone ◽  
Daniela Giammarino ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Repair ◽  
Adverse Effects ◽  
Cancer Patients ◽  
Breast Cancer Patients ◽  
Repair Capacity ◽  
Dna Repair Capacity

ERCC1 mRNA expression and XRCC1 polymorphism as predictive factors for overall survival in gastric cancer patients receiving platinum based chemotherapy

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 2512-2512 ◽  
Author(s):  
J. Wei ◽  
B. Liu ◽  
Z. Zou ◽  
X. Qian ◽  
W. Zhang ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Overall Survival ◽  
Dna Repair ◽  
Survival Time ◽  
Cancer Patients ◽  
Predictive Factors ◽  
Median Survival Time ◽  
Platinum Based Chemotherapy ◽  
Ercc1 Expression ◽  
Gastric Cancer Patients

2512 Background: DNA repair was considered to play the key role in the platinum chemotherapy. ERCC1, XPD and XRCC1, three major components of the DNA repair pathway, are critical to outcome for patients treated with platinum based chemotherapy. Methods: Overall survival times in 48 stage III (47.9%) and IV (52.1%) gastric cancer patients were investigated. mRNA was isolated from formalin- fixed paraffin-embeded pretreatment primary tumor specimens and the relative expression of ERCC1 to the internal reference geneβ-actin was measured using real-time quantitative reverse transcriptase polymerase chain reaction. Two single nucleotide polymorphisms (SNPs) (XPD Lys751Gln and XRCC1 Arg399Gln) were also investigated using 5’ nuclease allelic discrimination assay (TaqMan). Results: Median age was 55 years (range: 23 to 75 years); 35 males and 13 females; median survival time was 397 days. The median ERCC1 gene expression level from all 48 gastric tumors was 1.16, and the cutoff values for chemotherapy was 0.30. The median survival time for patients with lower ERCC1 expression (31 of 48 patients) was 496 days, compared with 218 days for patients with higher ERCC1 expression (P < 0.0001). SNP of XRCC1 Arg399Gln was measured in 47 gastric cancer patients (97.92%). Median overall survival time was longer in patients with favorite allele G in codon 399 of XRCC1 (40 of 47 patients) than in others (respectively 420 days vs 218 days, P = 0.017). No significant relationship was found between SNP of XPD Lys751Gln and outcome of gastric cancer patients. Conclusions: These findings suggested that intratumoral ERCC1 mRNA expression and polymorphism of XRCC1 might be prominent predictive factors for overall survival of gastric cancer patients treated with platinum based chemotherapy. Multi-center clinical trial has been suggested. No significant financial relationships to disclose.

scholarly journals 4355 Impact of Demographic & Racial Differences on DNA Repair Capacity in Lung Cancer

2020 ◽  
Vol 4 (s1) ◽  
pp. 137-137
Author(s):  
Francesca Christina Duncan ◽  
Catherine Sears ◽  
Nawar Al Narallah ◽  
Ahmad Al-Hader
Keyword(s):  
Lung Cancer ◽  
Dna Repair ◽  
African American ◽  
African Americans ◽  
Environmental Factors ◽  
Cancer Patients ◽  
Repair Capacity ◽  
Men And Women ◽  
Lung Cancer Patients ◽  
Dna Repair Capacity

OBJECTIVES/GOALS: Lung cancer is the leading cause of cancer-related mortality in the United States for both men and women. African Americans are disproportionately affected with lung cancer, having higher incidence and mortality rates compared to Caucasian men and women. African American smokers are diagnosed with lung cancer at a lower age with lower cumulative smoking history. Differences in socioeconomic and environmental factors likely contribute to lung cancer disparities, but less is known about acquired biologic alterations that can promote initiation and progression of lung cancer, particularly in African Americans. This is of interest because there may be other biological, genetic, or environmental factors contributing to lung cancer outcomes as it relates to differences in gender and race. One potential biologic variable may be in the DNA repair capacity (DRC), which describes a cell’s ability to repair damage to DNA caused by carcinogens, oxidants, and radiation. Altered DNA repair is a hallmark of cancer, leading to mutations and malignant transformation. We hypothesize that DRC is decreased in African Americans with lung cancer compared to Caucasian Americans with lung cancer, contributing to the disparity that exists in this racial group. We will 1) perform a retrospective chart review to determine demographic differences between African Americans and Caucasians at three central Indiana hospitals and 2) determine the impact of race and lung cancer on DRC amongst African Americans and Caucasians with and without lung cancer. METHODS/STUDY POPULATION: Lung cancer patients are identified in 3 central Indiana hospitals with different payer source and patient populations using ICD codes. Collected demographics include age, gender, pack-years, lung cancer histology, treatment, and mortality. DRC is measured by host-cell reactivation (non-homologous end-joining and nucleotide excision repair pathways) by flow-cytometry. Measurement of DRC is performed on PBMCs obtained from 120 patients (male and female, African Americans and Caucasians with and without lung cancer). Correlation of DRC and lung cancer will be determined by comparing lung cancer diagnosis to quartile DRC, and adjusted for confounders (measured demographics). Correlative measures will include measures of DNA damage and genomic instability. RESULTS/ANTICIPATED RESULTS: 3450 lung cancer patients were diagnosed with lung cancer at Indiana University Hospital between 1/1/2000 – 5/31/2015. Of these, 48.2% were female and 92.7% smokers. African Americans, Caucasians and Other ethnicities represented 12%, 86% and 2%, respectively. Of smokers, 11.4% were African American. The primary payer source was Federal/Medicare. Retrospective review of lung cancer patients from two additional health systems (county and VA hospitals) will be performed as above with outcomes measured. DRC and additional correlative measures will be performed as in Methods. DISCUSSION/SIGNIFICANCE OF IMPACT: If present, altered DRC in African Americans compared to Caucasians may contribute to the disproportional impact of lung cancer on African Americans. If DRC is decreased in African Americans with lung cancer, future studies will focus on identifying potential genetic, epigenetic and environmental causes for this decrease.

scholarly journals Association of DNA Repair and Drug Transporter in Relation to Chemosensitivity in Primary Culture of Thai Gastric Cancer Patients

2018 ◽  
Vol 41 (3) ◽  
pp. 360-367 ◽  
Author(s):  
Pattama Wongsirisin ◽  
Sirikan Limpakan Yamada ◽  
Supachai Yodkeeree ◽  
Wanisa Punfa ◽  
Pornngarm Limtrakul
Keyword(s):  
Gastric Cancer ◽  
Dna Repair ◽  
Primary Culture ◽  
Cancer Patients ◽  
Drug Transporter ◽  
Gastric Cancer Patients

scholarly journals Molecular contribution of BRCA1 and BRCA2 to genome instability in breast cancer patients: review of radiosensitivity assays

2020 ◽  
Vol 22 (1) ◽  
Author(s):  
Fatemeh Sadeghi ◽  
Marzieh Asgari ◽  
Mojdeh Matloubi ◽  
Maral Ranjbar ◽  
Nahid Karkhaneh Yousefi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cell Cycle ◽  
Dna Repair ◽  
Cancer Patients ◽  
Micronucleus Assay ◽  
Breast Cancer Patients ◽  
Brca1 And Brca2 ◽  
Repair Capacity ◽  
Dna Repair Capacity ◽  
History Of

Abstract Background DNA repair pathways, cell cycle arrest checkpoints, and cell death induction are present in cells to process DNA damage and prevent genomic instability caused by various extrinsic and intrinsic ionizing factors. Mutations in the genes involved in these pathways enhances the ionizing radiation sensitivity, reduces the individual’s capacity to repair DNA damages, and subsequently increases susceptibility to tumorigenesis. Body BRCA1 and BRCA2 are two highly penetrant genes involved in the inherited breast cancer and contribute to different DNA damage pathways and cell cycle and apoptosis cascades. Mutations in these genes have been associated with hypersensitivity and genetic instability as well as manifesting severe radiotherapy complications in breast cancer patients. The genomic instability and DNA repair capacity of breast cancer patients with BRCA1/2 mutations have been analyzed in different studies using a variety of assays, including micronucleus assay, comet assay, chromosomal assay, colony-forming assay, γ -H2AX and 53BP1 biomarkers, and fluorescence in situ hybridization. The majority of studies confirmed the enhanced spontaneous & radiation-induced radiosensitivity of breast cancer patients compared to healthy controls. Using G2 micronucleus assay and G2 chromosomal assay, most studies have reported the lymphocyte of healthy carriers with BRCA1 mutation are hypersensitive to invitro ionizing radiation compared to non-carriers without a history of breast cancer. However, it seems this approach is not likely to be useful to distinguish the BRCA carriers from non-carrier with familial history of breast cancer. Conclusion In overall, breast cancer patients are more radiosensitive compared to healthy control; however, inconsistent results exist about the ability of current radiosensitive techniques in screening BRCA1/2 carriers or those susceptible to radiotherapy complications. Therefore, developing further radiosensitivity assay is still warranted to evaluate the DNA repair capacity of individuals with BRCA1/2 mutations and serve as a predictive factor for increased risk of cancer mainly in the relatives of breast cancer patients. Moreover, it can provide more evidence about who is susceptible to manifest severe complication after radiotherapy.

scholarly journals A Functional Variant at the miR-214 Binding Site in the Methylenetetrahydrofolatereductase Gene Alters Susceptibility to Gastric Cancer in a Chinese Han Population

2015 ◽  
Vol 36 (2) ◽  
pp. 622-630 ◽  
Author(s):  
Qiaoyun Chen ◽  
Rong Qin ◽  
Yue Fang ◽  
Hao Li ◽  
Yangchen Liu
Keyword(s):  
Gastric Cancer ◽  
Binding Site ◽  
Cancer Patients ◽  
Binding Sites ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk ◽  
Functional Variant ◽  
Gastric Cancer Patients

Background and Aims: Single nucleotide polymorphisms in miRNA binding sites, which are located in mRNA 3' untranslated regions (3'-UTRs), were recently found to influence microRNA-target interactions. Specifically, such polymorphisms can modulatebinding affinity or create or destroy miRNA-binding sites; such variants have also been found to be associated with cancer risk. In this study, we explored the effect of a functional variant at the miR-214 binding site in the methylenetetrahydrofolate reductase gene (rs114673809) on gastric cancer (GC) risk in a hospital-based case-control study in a Chinese Han population. Methods and Results: We genotyped the rs114673809 polymorphism in 345 gastric cancer patients and 376 cancer-free controls using the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) technique. The functions of rs114673809 were investigated using a luciferase activity assay and validated by immunoblotting. We found that participants carrying the rs114673809 AA genotype or A allele had a significantly increased risk of gastric cancer (OR = 1.667, 95% CI = 1.044-2.660, P = 0.034; OR = 1.261, 95% CI = 1.017-1.563, P = 0.037, respectively) compared to those carrying the GG genotype and G allele. In addition, rs114673809 modified the binding of hsa-miR-214 to MTHFR as well as MTHFR protein levels in gastric cancer patients. Conclusion: Our data suggested that rs114673809, which is located at the miR-214 binding site in the 3'-UTR of MTHFR, may play an important role in the development of gastric cancer in a Chinese Han population.

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