• One hundred sixteen consecutive ovarian cancer patients seen for routine clinical care were examined for BRCA1, BRCA2, hMSH2, and hMLH1 gene mutations with use of the polymerase chain reaction, single-strand conformation polymorphism analysis, and direct gene sequencing. (nih.gov)
  • Recently, several studies have investigated the association between a newly reported rare functional single nucleotide polymorphism (SNP) in TP53 (rs78378222) and cancer risk, but generated inconsistent findings. (duke.edu)
  • We analysed 50 probands with a family history of breast and/or ovarian cancer for germline mutations in the coding region of the BRCA1 candidate gene, using single-strand conformation polymorphism (SSCP) analysis on PCR-amplified genomic DNA. (nih.gov)
  • Analysis of BRAF (V600E) mutation was performed by single strand conformation polymorphism (SSCP) analysis and real-time allele-specific polymerase chain reaction (ASPCR) in tumour tissues from 25 patients with PTC. (nel.edu)
  • mean age 58 years) using single stranded conformation polymorphism and sequence analysis. (lu.se)
  • Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. (lookformedical.com)
  • Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. (lookformedical.com)
  • Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. (lookformedical.com)
  • Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm. (lookformedical.com)
  • Among 116 unselected ovarian cancer patients we identified a total of 13 germline mutations in 12 patients: 10 in BRCA1, one each in hMSH2 and hMLH1, and a single BRCA2 mutation, which occurred in a patient also carrying a BRCA1 mutation. (nih.gov)
  • Genotoxic carcinogens react directly with the DNA of the cell, finally resulting in a mutation. (invitrojobs.com)
  • They do not trigger any short-term mutations in eukaryotic and prokaryotic mutation tests and do not induce any direct DNA damage in the target organ. (invitrojobs.com)
  • It is worth remembering, among other things, that mutation mutations are different, and according to the latest genomic research, in each generation a person acquires about 60 new mutations (which were not in the DNA of his parents). (vechnayamolodost.ru)
  • The predominant mutation of this gene, reported in PTC, is a single transversion in exon 15 (T1799A), which results in substitution of valine to glutamate at residue 600 (BRAF V600E, formerly position 1796 and residue V599E). (nel.edu)
  • The BLM mutations can be found in compound heterozygous forms, homozygous forms, or as single gene mutation forms. (medscape.com)
  • Cells in pre-malignant and malignant neoplasms (tumors) evolve by natural selection. (wikipedia.org)
  • Owing to the genomic instability present in this disease, patients with Bloom syndrome show a much higher incidence of malignant neoplasms, which is the major cause of death in such patients. (medscape.com)
  • Bleomycin is therapeutically used to treat malignant neoplasms such as sarcomas, lymphomas, melanomas, and germinal cell cancers. (yashodahospitals.com)
  • Bleomycin is approved for use in adults and can be used alone or with other drugs as palliative treatment and management of malignant neoplasms. (yashodahospitals.com)
  • AAVs are nonenveloped single-stranded DNA viruses used in gene therapy to insert copies of missing genes into host cells. (unboundmedicine.com)
  • Mapping, gene -- Determination of the relative positions of genes on a chromosome (or other DNA molecule) and of the distance, in linkage units or physical units, between them. (nih.gov)
  • What is the best protocol of single-agent methotrexate chemotherapy in nonmetastatic or low-risk metastatic gestational trophoblastic tumors? (medscape.com)
  • Roberts JP, Lurain JR. Treatment of low-risk metastatic gestational trophoblastic tumors with single-agent chemotherapy. (medscape.com)
  • 5 However, tumors can also be of genetic origin or caused by ionizing radiation, viruses or chemical substances (single substances or mixtures). (invitrojobs.com)
  • epstein-barr virus (ebv)-associated smooth muscle tumors (smts) following solid organ transplantation are very rare slow growing neoplasms. (liverpool.ac.uk)
  • Definitive medical diagnosis ended up being squamous carcinoma from the endometrium, together with a single lymph node metastasis (stage IIIC1). (mmpsignaling.com)
  • results from their study show the importance of the RAD51 nucleoprotein filament conformation for stimulating DNA pairing by BLM . (medscape.com)
  • All specimens were first tested for WU virus DNA by using primers AG0048 and AG0049, which allowed the amplification of a 244-bp product in the 3′ end of the large T antigen (TAg) region ( 7 ). (cdc.gov)
  • Excision repair cross-complementation group 4 gene (ERCC4/XPF) plays an important role in nucleotide excision repair and participates in removal of DNA interstrand cross-links and DNA double-strand breaks. (duke.edu)
  • Here, we show that POLQ is not only required for MMEJ to repair DNA double-strand breaks (DSBs) generated by endonucleases such as I-SceI or Cas9, but is also needed for repair of DSBs derived from DNA nicks generated by Cas9 nickase. (elsevierpure.com)
  • DNA polymerase theta (Polθ, encoded by POLQ gene) plays an essential role in Polθ-mediated end-joining (TMEJ) of DNA double-strand breaks (DSB). (aacrjournals.org)
  • In this regard, hMGL treatment induced S and G2 phase cell cycle arrest, decreased nucleotide levels, and increased DNA double-strand breaks suggesting an important role for replication stress in the mechanism of hMGL effects on melanoma cells. (bvsalud.org)
  • METHODS: DNA single strand breaks and clustered oxidative DNA damage were evaluated by alkaline comet assay and pulsed field gel electrophoresis, respectively. (bvsalud.org)
  • Neutral comet assay and immunofluorescence staining was used to measure DNA double strand breaks. (bvsalud.org)
  • RESULTS: PCa cells treated with Cyst(e)inase lead to DNA single and double strand breaks resulted from clustered oxidative DNA damage (SSBs and DSBs). (bvsalud.org)
  • Rad51 is involved in DNA REPAIR of double-strand breaks. (lookformedical.com)
  • Flow cytometric analysis of end labelled SE suspensions showed DNA breaks in up to 85% of the tumour cells. (prinsesmaximacentrum.nl)
  • The DNA can also be damaged by an organism own metabolism (by so-called reactive oxygen molecules for example from the respiratory chain) in form of base loss, base modification or DNA single or double-strand breaks. (invitrojobs.com)
  • Researchers suspect that there occur 5,000 so-called DNA strand breaks per hour in the cell alone. (invitrojobs.com)
  • On this study, we identify exactly how VS cellular material type in mobile cycle criminal arrest (through p21 term), trigger Genetic make-up restore (via RAD51 upregulation), and avoid cell demise soon after radiation-induced double-stranded breaks (DSB) inside Genetics (because calculated simply by γ-H2AX). (mmpsignaling.com)
  • The production of DNA interstrand crosslinks (ISC) by BCNU and other bifunctional alkylators and the effects of these drugs on the repair of radiation-induced DNA-single strand breaks (SSB) were studied in two human glioblastoma used to assess both DNA-ISCs and DNA-SSBs. (duke.edu)
  • [ 7 , 8 ] Sister chromatid exchanges are considered a sensitive indicator for cell genome instability, as they are thought to be the outcome of DNA double-strand breaks resulting from homologous recombination repair. (medscape.com)
  • Extremely lethal consequences of IR causes double-strand breaks, which are mainly responsible for genomic instability, altered gene expression, and cell death. (biomedcentral.com)
  • While many of the genetic and epigenetic abnormalities in neoplasms are probably neutral evolution, many have been shown to increase the proliferation of the mutant cells, or decrease their rate of death (apoptosis). (wikipedia.org)
  • We investigated whether dissociation of tumour tissue, to obtain single-cell suspensions for in vitro culture, results in the onset of apoptosis. (prinsesmaximacentrum.nl)
  • In these 11 tumours, apoptosis-specific DNA ladders, indicative of internucleosomal double-strand DNA cleavage, were not detected on electrophoresis gels. (prinsesmaximacentrum.nl)
  • DNA polymerase (POLQ) plays an important role in alternative nonhomologous end joining or microhomology-Mediated end joining (alt-NHEJ/MMEJ). (elsevierpure.com)
  • This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. (cancerindex.org)
  • Association between single nucleotide polymorphisms in ERCC4 and risk of squamous cell carcinoma of the head and neck. (duke.edu)
  • Inhibits topoisomerase II and causes DNA strand breakage, causing cell proliferation to arrest in late S or early G 2 portion of cell cycle. (medscape.com)
  • Inhibits DNA synthesis and, thus, cell proliferation, by causing DNA cross-links and denaturation of double helix. (medscape.com)
  • The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (lookformedical.com)
  • BML mutations thus result in defects in DNA repair and genomic instability in the somatic cells, predisposing the patients to cancer development. (medscape.com)
  • Dr Kasuya Motomura amplification bias, we assessed genome secondary events reflecting progressive wide chromosomal imbalance by array genomic instability, a hallmark of CGH (Agilant 105K) in DNA from 2-5 glioblastomas. (who.int)
  • As alkylating agent, mechanism of action of active metabolites may involve cross-linking of DNA, which may interfere with growth of normal and neoplastic cells. (medscape.com)
  • 1995. Relating aromatic hydrocarbon-induced DNA adducts and c-H-ras mutations in mouse skin papillomas. (cdc.gov)
  • They can lead to mutations or increase the error rate during the doubling of the DNA during each cell division. (invitrojobs.com)
  • Mutagenicity must be distinguished from genotoxicity: mutagens are substances or radiation that cause a change in the DNA which leads to a change in the genetic makeup. (invitrojobs.com)
  • Non-genotoxic substances work through secondary mechanisms that do not involve any direct interaction with DNA. (invitrojobs.com)
  • It encodes a large nuclear protein that is a component of DNA repair pathways. (lookformedical.com)
  • It encodes a large, nuclear protein that is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (lookformedical.com)
  • Discordant Mismatch Repair Protein Immunoreactivity in Lynch Syndrome-Associated Neoplasms: ?A Recommendation for Screening Synchronous/Metachronous Neoplasms. (uams.edu)
  • Intercalates between guanine and cytosine base pairs, inhibiting DNA and RNA synthesis and protein synthesis. (medscape.com)
  • Cell-free system -- A mixture of cytoplasmic and/or nuclear components from cells used for in vitro protein synthesis, transcription, DNA replication, or other purposes. (nih.gov)
  • The amino acid sequence of the protein is given along each axis in one-letter code, and the secondary structure is indicated as follows: E is extended b-strand, H is helix. (binaryoptiontradingscam.com)
  • This protein plays a pivotal role in DNA recombination and repair. (medscape.com)
  • Expression of the L1 protein using recombinant DNA technology produces noninfectious virus-like particles (VLPs). (cdc.gov)
  • The CD19 reactivity patterns differ from those of CD20 in several B-cell lesions: In plasma cells neoplasms with t(11;14) the expression of CD19 and CD20 is mutually exclusive, the majority of cases are CD20+ while only a small fraction of these tumours expresses CD19. (nordiqc.org)
  • 2,3 The majority of these neoplasms reside in the supratentorial compartment and, as noted by Volpe, the clinical manifestations of congenital brain tumours usually involve one or more of four typical syndromes. (touchoncology.com)
  • During cell division, tissue rejuvenation occurs: new cells take the place of damaged ones, while repair (elimination of DNA damage) occurs more intensively and regeneration is possible in case of tissue damage. (vechnayamolodost.ru)
  • Bleomycin's primary mechanism of action is to oxidatively damage DNA by binding to metal ions, including iron, and forming metallic bleomycin complexes. (yashodahospitals.com)
  • This study evaluated the effect of matrix metalloproteinases-2 (MMP-2) gene silencing using MMP-2 shRNA expression plasmids (pMMP-2) on IR induced cytotoxicity and DNA damage by MTT, dead green, γH2AX and comet assays in human normal dermal fibroblasts (HDFs) and MCF-7 human breast cancer cells. (biomedcentral.com)
  • IR induced DNA damage in both HDFs and MCF-7 cells. (biomedcentral.com)
  • Further, DNA damage in terms of γH2AX foci decreased with pMMP-2 transfection in irradiated HDFs (10Gy) and increased in irradiated MCF-7 cells (10Gy). (biomedcentral.com)
  • The results conclude that pMMP-2 has protected HDFs and sensitized the MCF-7 cells from IR induced DNA damage. (biomedcentral.com)
  • The aim of the present investigation is to study the effect of MMP-2 gene silencing by transfection of MMP-2 shRNA expression plasmids (pMMP-2on radiation-induced DNA damage in human normal dermal fibroblasts (HDFs) and MCF-7 cells. (biomedcentral.com)
  • BCNU-treated UWR2 and UWR3 cells showed a significant BCNU dose-dependent increase in radiation-induced DNA-SSBs at 6 hrs post-drug treatment, and at 100 microM BCNU DNA-ISC was completely masked in UWR2 cells. (duke.edu)
  • There was no enhancement of radiation-induced DNA-SSBs in both cell lines after treatment with cis-DDP, CHZ, or MNU. (duke.edu)
  • DNA, or deoxyribonucleic acid -- The primary genetic material of all cellular organisms and the DNA viruses. (nih.gov)
  • The target is the basic genetic material (genome) of the cell, the deoxyribonucleic acid (DNA). (invitrojobs.com)
  • Neoplasms are mosaics of different mutant cells with both genetic and epigenetic changes that distinguish them from normal cells. (wikipedia.org)
  • See Hallmarks below) Cells in neoplasms compete for resources, such as oxygen and glucose, as well as space. (wikipedia.org)
  • In this way, a population of mutant cells, called a clone, can expand in the neoplasm. (wikipedia.org)
  • In contrast, three SEs with over 12% of apoptotic tumour cells in the intact tissue and all analysed (pure) SE cell suspensions, obtained after mechanical dissociation of intact tumour tissue, showed DNA ladders. (prinsesmaximacentrum.nl)
  • As indicated by cell morphology and DNA degradation, SE cells appear to rapidly enter the apoptotic pathway upon mechanical disruption of their microenvironment. (prinsesmaximacentrum.nl)
  • We provide evidence that the synergism between BCNU and radiation in the generation of DNA-SSBs is the result of low DNA-SSB repair capacity of the cells, and is further potentiated by the carbamoylating action of BCNU. (duke.edu)
  • Bleomycin inhibits the uncontrolled cell division in cancer-causing cells by inhibiting DNA synthesis. (yashodahospitals.com)
  • Bleomycin interacts with cancerous cells and binds with the DNA, and inhibits cell synthesis by breaking DNA strands. (yashodahospitals.com)
  • It is observed that both biological effects and epidemiological effects appear to be the same or very similar from ELF exposure and from RF/MW exposures, including calcium ion efflux, melatonin reduction, DNA strand breakage, chromosome aberrations, leukaemia, brain cancer, breast cancer, miscarriage and neurological effects. (whale.to)
  • Polyomaviruses are nonenveloped viruses that have an icosahedral capsid containing a small, circular, double-stranded DNA genome ( 1 ). (cdc.gov)
  • The 400 known viruses are classified in several ways: by genome core (RNA or DNA), host (animals, plants, or bacteria), method of reproduction (such as retrovirus), mode of transmission (such as enterovirus), and disease produced (such as hepatitis virus). (unboundmedicine.com)
  • Autoantibodies are frequently seen in localized scleroderma, particularly antinuclear antibodies and antibodies to single-stranded DNA and histones. (medscape.com)
  • Small increase in CD19 density on the cell surface is associated with production of specific autoantibodies (against single- and double-stranded DNA, histone, rheumatoid factor and antinuclear antibodies). (nordiqc.org)
  • Anti-double stranded DNA antibody (anti-dsDNA Ab) and antinuclear antibody were positive. (jrd.or.kr)
  • The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. (lookformedical.com)
  • Enzymes that are involved in the reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule, which contained damaged regions. (uams.edu)
  • iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. (disgenet.org)
  • Light (18 Gy) brought on the actual term involving γ-H2AX, p21, and RAD51 in six to eight classy As opposed to, indicating that will irradiated VS acquire DSBs, enter mobile period police arrest, along with trigger RAD51 DNA restoration in order to avoid cellular demise. (mmpsignaling.com)
  • Advances in cytogenetics facilitated discovery of chromosome abnormalities in neoplasms, including the Philadelphia chromosome in chronic myelogenous leukemia and translocations in acute myeloblastic leukemia. (wikipedia.org)
  • BACKGROUND: Prostate Cancer (PCa) represents one of the most commonly diagnosed neoplasms in men and is associated with significant morbidity and mortality. (bvsalud.org)
  • The goals of pharmacotherapy are to reduce morbidity and to eradicate the neoplasm. (medscape.com)
  • The genetic material is fundamentally the double helix of the DNA molecule. (whale.to)
  • Any substance that damages DNA or chromosomes, or changes genetic activity, is genotoxic because it is acting on the same material, i.e. the DNA molecule. (whale.to)
  • ImmunoGen Inc. (Nasdaq: IMGN), a leader in the expanding field of antibody-drug conjugates (ADCs) for the treatment of cancer, today announced updated data from an interim analysis of the Phase 2 CADENZA trial of pivekimab sunirine (pivekimab) in patients with frontline and relapsed/refractory (R/R) blastic plasmacytoid dendritic cell neoplasm (BPDCN). (observernewsonline.com)
  • Consistently, we found that POLQ deficiency leads to sensitivity to topoisomerase inhibitors that cause DNA single-strand break (SSB) accumulation at replication forks and to ATR inhibitors that induce replication fork collapse. (elsevierpure.com)
  • DNA Repair Enzymes" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uams.edu)
  • This graph shows the total number of publications written about "DNA Repair Enzymes" by people in UAMS Profiles by year, and whether "DNA Repair Enzymes" was a major or minor topic of these publications. (uams.edu)
  • Below are the most recent publications written about "DNA Repair Enzymes" by people in Profiles over the past ten years. (uams.edu)
  • Recent studies on identification of susceptibility factors, i.e., inherited metabolic capacity of glutathione-s-transferase M1, T1 enzyme activities, catechol-O methyltransferase, XRCC1, a DNA repair enzyme for single-strand break, etc. that predispose individuals to breast cancer if they are exposed to particular environmental agents may possibly give further insight into both the etiology and the prevention of this malignancy. (jkma.org)
  • Scholars@Duke publication: DNA interstrand crosslinking and strand break repair in human glioma cell lines of varying [1,3-bis(2-chloroethyl)-1-nitrosourea] resistance. (duke.edu)
  • Both diseases involve the BRAFT and FANCM complexes, which are important in DNA repair. (medscape.com)
  • Metnase Mediates Loading of Exonuclease 1 onto Single Strand Overhang DNA for End Resection at Stalled Replication Forks. (uams.edu)
  • Is lack of response to single-agent chemotherapy in gestational trophoblastic disease associated with dose scheduling or chemotherapy resistance? (medscape.com)
  • Inside the cell, enzymes create RNA and DNA by facilitating the reaction of ribose with adenosine. (nih.gov)