• We also analyze the contribution of enhancer DNA methylation on the expression of relevant genes in acute myeloid leukemia and chronic myeloproliferative neoplasms. (cun.es)
  • Finally, we identified aberrant methylation in multiple genes also targeted by recurring DNA copy number alterations in ALL, suggesting that these genes are inactivated far more frequently than suggested by structural genomic analyses alone. (lu.se)
  • Genes are parts of DNA in your cells that you inherit from your parents. (medlineplus.gov)
  • NEW YORK - Secondary cancer risk appears to jump in pediatric cancer patients carrying risky germline variants in DNA repair genes who are exposed to DNA-damaging treatments such as chemotherapy or radiotherapy as part of their original treatment, new research suggests. (genomeweb.com)
  • More than 11 percent of the survivors carried pathogenic variants in one or more of the DNA repair genes profiled - alterations that together affected almost 100 different DNA repair genes, the researchers reported. (genomeweb.com)
  • Together, they suggested, the new results "have the potential to facilitate identification of high-risk survivors who may benefit from genetic counseling and/or testing of [DNA repair genes], which may further inform personalized cancer surveillance and prevention strategies. (genomeweb.com)
  • Introduction: CHEK2 gene is one of the genes in the DNA repair complex. (endocrine-abstracts.org)
  • Importantly, TBL1XR1's pronounced association with several DNA Damage repair (DDR) genes was noted suggesting influence on DNA repair. (iiarjournals.org)
  • The TBL1XR1-DDR genes connection offers insights into potential DNA repair roles, paving avenues for innovative therapies in B-cell lymphomas. (iiarjournals.org)
  • Epigenetics directly affects the timing and expression of genes without changing the DNA sequence itself. (pancan.org)
  • We determined the configuration of the genes for the beta (T beta) and gamma (T gamma) chains of the T cell receptor in DNA from 100 consecutive cases of B cell lymphoma and B cell chronic lymphocytic leukemia (B-CLL), and compared the findings with those in 18 T cell neoplasms. (jci.org)
  • Sequence alterations are abundant in cancer genomes but the proportion of fragments in cell-free DNA (cfDNA) that harbor tumor-specific (somatic) mutations is often low 8 , 9 , making it difficult to detect bona fide variants amidst background noise from sequence changes introduced in library construction and sequencing. (nature.com)
  • Here, we considered whether identifying somatic mutations genome-wide could enable the detection of an increased number of circulating tumor DNA (ctDNA) alterations and increase the detection of early stage disease. (nature.com)
  • Methods: Flow cytometric analysis of DNA pliody and S-Phase Fraction (SPF) was done in 50 fresh tumor tissue sections of SGTs which diagnosed as 15 benign and 35 malignant tumors. (researchgate.net)
  • The most common tumor of the parotid gland is the pleomorphic adenoma , which represents about 60% of all parotid neoplasms, as seen in the table below. (medscape.com)
  • His main academic interest is in brain tumor pathology, with emphasis on molecular neuropathology, pediatric gliomas, and neoplasms arising in patients with tumor predisposition syndromes. (hopkinsmedicine.org)
  • We know that, especially in the adjuvant setting, there's a proportion of patients who are cured, who are never going to be positive in their circulating tumor DNA (ctDNA). (medscape.com)
  • Consequently, these changes in gene expression can inhibit genetic regions related to tumor suppression, cell growth, DNA repair, intracellular binding, and inhibition of metastasis, among other processes. (bvsalud.org)
  • We analyzed whole-genome sequencing data from 2,511 individuals in the Pan-Cancer Analysis of Whole Genomes (PCAWG) study as well as 489 individuals from four prospective cohorts and found distinct regional mutation type-specific frequencies in tissue and cell-free DNA from patients with cancer that were associated with replication timing and other chromatin features. (nature.com)
  • Mice homozygous for a targeted null mutation are viable and fertile but exhibit increased sensitivity to the DNA interstrand cross-linking agent mitomycin C. (jax.org)
  • In recent years, we've been hearing a lot about DNA and related concepts such as gene, mutation, and cloning. (nytimes-se.com)
  • In this research, we evaluated the prevalence of the JAK2 mutation and its clinical and laboratory correlation in patients with myeloproliferative neoplasms. (tubitak.gov.tr)
  • Materials and methods: A total of 615 patients with suspected myeloproliferative neoplasms (MPNs) were analyzed for the JAK2 V617F mutation. (tubitak.gov.tr)
  • After DNA extraction, detection of the mutation was done using allele-specific PCR. (tubitak.gov.tr)
  • Myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) overlap syndromes-disorders that include features of both myelodysplastic syndrome (MDS) and myeloproliferative neoplasm (MPN)-are entities whose diagnosis and management have proved challenging. (medscape.com)
  • For comparison, we similarly characterize 23 cases with overlapping features of MDS and myeloproliferative neoplasm (MDS/MPN), namely juvenile myelomonocytic leukemia (JMML), and 8 cases of AML with myelodysplasia-related changes (AML-MRC). (nature.com)
  • Analysis of DNA Methylation Gene Mutations and Clinical Features in Patients with Myeloproliferative Neoplasm]. (cdc.gov)
  • Recent reports have shown that neutron-based radiation therapy may be more effective than photon-based radiation therapy for the treatment of malignant salivary gland neoplasms with gross disease and provides excellent local and regional control of microscopic disease. (medscape.com)
  • DNA Methylation of Enhancer Elements in Myeloid Neoplasms: Think Outside the Promoters? (cun.es)
  • Gene regulation through DNA methylation is a well described phenomenon that has a prominent role in physiological and pathological cell-states. (cun.es)
  • Recent genome-wide DNA methylation studies have challenged this paradigm, demonstrating that DNA methylation of regulatory regions outside promoters is able to influence cell-type specific gene expression programs under physiologic or pathologic conditions. (cun.es)
  • Coupling genome-wide DNA methylation assays with histone mark annotation has allowed for the identification of specific epigenomic changes that affect enhancer regulatory regions, revealing an additional layer of complexity to the epigenetic regulation of gene expression. (cun.es)
  • In this review, we summarize the novel evidence for the molecular and biological regulation of DNA methylation in enhancer regions and the dynamism of these changes contributing to the fine-tuning of gene expression. (cun.es)
  • The characterization of the aberrant enhancer DNA methylation provides not only a novel pathogenic mechanism for different tumors but also highlights novel potential therapeutic targets for myeloid derived neoplasms. (cun.es)
  • Previous studies of DNA methylation suggest epigenetic alterations may also be important, but an integrated genome-wide analysis of genetic and epigenetic alterations in ALL has not been performed. (lu.se)
  • We analyzed 137 B-lineage and 30 T-lineage childhood ALL cases using microarray analysis of DNA copy number alterations and gene expression, and genome-wide cytosine methylation profiling using the HpaII tiny fragment enrichment by ligation-mediated PCR (HELP) assay. (lu.se)
  • We found that the different genetic subtypes of ALL are characterized by distinct DNA methylation signatures that exhibit significant. (lu.se)
  • Moreover, these long noncoding RNAs were transcriptionally regulated by epigenetic modification, including DNA methylation and histone methylation modification. (cancerindex.org)
  • He frequently works in collaboration with clinical colleagues and has prior experience with next-generation sequencing, DNA methylation profiling, and spatial proteomic and transcriptomic techniques. (hopkinsmedicine.org)
  • To study the possible role of TP53 in astrocytoma development, 24 randomly chosen human astrocytic tumors were examined for genomic TP53 sequence aberrations using primer-directed DNA amplification in conjunction with direct sequencing. (nih.gov)
  • Aim: The aim of this study is to investigate the DNA ploidy and S-Phase Fraction (SPF) of some Salivary Gland Tumors (SGTs) in Egyptian patients and to investigate the correlation between these two biological parameters and the presumptive behavior of these neoplasms. (researchgate.net)
  • Conclusion: DNA aneuploidy may be a key indicator for tumors activity and malignancy in SGTs, while the SPF has a minor role in the evaluation of SGTs activity. (researchgate.net)
  • Although researchers have learned much from the study of this diverse group of tumors over the years, the diagnosis and treatment of salivary gland neoplasms remain complex and challenging problems for the head and neck surgeon. (medscape.com)
  • Salivary gland neoplasms make up 6% of all head and neck tumors. (medscape.com)
  • [ 4 , 5 ] ) Benign neoplasms occur more frequently in women than in men, but malignant tumors are distributed equally between the sexes. (medscape.com)
  • Almost half of all submandibular gland neoplasms and most sublingual and minor salivary gland tumors are malignant. (medscape.com)
  • Five mice (9%) exposed to MCA and MWCNT and 1 (1.6%) exposed to MCA developed serosal tumors morphologically consistent with sarcomatous mesotheliomas, whereas mice administered MWCNT or air alone did not develop similar neoplasms. (cdc.gov)
  • [ 2 ] Histones are proteins that both provide structural support for DNA (DNA wraps around a core of histones to form nucleosomes) and are involved in the regulation of gene expression. (medscape.com)
  • There was no significant relationship between the DNA ploidy status and histopathological grading, lymph node metastasis and local recurrence development, respectively. (researchgate.net)
  • Genomic translocations are well-established drivers of therapy-related myeloid neoplasms (t-MNs). (cancer.gov)
  • SSCP (single-strand conformation polymorphism) analysis and direct sequencing of polymerase chain reaction (PCR)-amplified DNA were used to establish that 6/29 tumours possessed point mutations of the p53 gene. (nih.gov)
  • DNA testing is also used in the diagnosis of certain microorganisms. (nytimes-se.com)
  • The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis. (cdc.gov)
  • Research of Low-frequency Microsatellite Instability has been linked to Microsatellite Instability, High-frequency Microsatellite Instability, Malignant Neoplasms, Neoplasms, Colorectal Cancer. (novusbio.com)
  • The members of the DNA Repair Interest Group perform research in areas including DNA repair enzymology and fine structure, mutagenesis, gene and cell cycle regulation, protein structure, and human disease. (nih.gov)
  • Epigenetics refers to the physical structure, packaging and location of DNA and its interacting protein partners. (pancan.org)
  • The first goal of Dr. Chandwani's project is to assess the structure of the epigenetic DNA/protein machinery in acinar and ductal cells of the pancreas. (pancan.org)
  • A Fanconi anemia complementation group protein that contains an N-terminal DNA-binding region and seven, C-terminal, WD REPEATS. (bvsalud.org)
  • Development of a Real-Time qPCR Assay for Detection of Common MPL Mutations in Myeloproliferative Neoplasms (MPNS). (cdc.gov)
  • Contrasting information was derived through a literature review by Louredo et al, which indicated that in pediatric patients, most salivary gland neoplasms (75.4%) are malignant. (medscape.com)
  • Despite this progress, no study to date has performed comprehensive sequencing on a pediatric MDS cohort to fully understand somatic and germline variation in this neoplasm. (nature.com)
  • Is There a Link Between DNA Polymerase Beta and Cancer? (nih.gov)
  • A recessive variant of XRCC4 predisposes to non- BRCA1/2 breast cancer in chinese women and impairs the DNA damage response via dysregulated nuclear localization. (duke.edu)
  • These changes have been predicted by cancer epidemiologists for many years, but even they are surprised by the speed at which these changes are occurring, e.g., the emergence of cancer of the breast, colon and prostate in several countries in which these neoplasms were hardly known only 20 to 30 years ago. (who.int)
  • 6XUYLYDO RI FDQFHU SDWLHQWV Survival data allow the calculation of the prevalence of organ-specific neoplasms in a given country and provide a basis for national cancer control strategies to be pursued in collaboration with the WHO programme on cancer control. (who.int)
  • In all eukaryotes, topoisomerases are the key DNA-binding enzymes involved in the control of the DNA topological state during important cellular processes and are among the important biomarkers for cancer prognosis and treatment. (au.dk)
  • The purpose of this study is to elucidate the association between PM 2.5 and oral neoplasm, including oral potentially malignant disorder (OPMD) and oral cancer (OC), taking into account the geographical heterogeneity. (aaqr.org)
  • Collectively, our findings provide compelling evidence of increased [subsequent neoplasm] risk among childhood cancer survivors with [DNA repair gene] mutations and prior genotoxic treatment exposures," the authors wrote. (genomeweb.com)
  • Discovery of 17 regions of the genome associated with a risk of myeloproliferative neoplasms, a type of blood cancer. (nebula.org)
  • Myeloproliferative neoplasms are a type of blood cancer that occurs when the bone marrow overproduces blood stem cells. (nebula.org)
  • Salivary gland neoplasms occurred with slightly greater frequency in girls (57.4% of patients) than in boys. (medscape.com)
  • Combination therapies involving melphalan, a small-molecule DNA alkylating agent, are commonly prescribed to patients with relapsed or refractory MM, necessitating the stratification of responding patients to minimize toxicities and improve quality of life. (snmjournals.org)
  • Study of CALR, MPL, and c-kit Gene Mutations in Thai Patients with JAK2 V617F Negative Myeloproliferative Neoplasms. (cdc.gov)
  • As a major defense against environmental damage to cells DNA repair is present in all organisms examined including bacteria, yeast, drosophila, fish, amphibians, rodents and humans. (nih.gov)
  • The bottom line for humans is that DNA testing can be used for diagnostic purposes for many diseases. (nytimes-se.com)
  • Multiple myeloma (MM) is a debilitating neoplasm of terminally differentiated plasma B cells that resulted in over 13,000 deaths in 2017 alone. (snmjournals.org)
  • Their preliminary data show fluctuations in chromatin mobility in response to DNA damage, which may impact genomic translocation frequencies in cells with DNA damage. (cancer.gov)
  • Surprisingly, the genetic sequence of the DNA in cells that have undergone ADM is not different from the original acinar cells. (pancan.org)
  • He and his research team will next identify epigenetic changes that occur as normal cells of the pancreas are transformed to precancerous (pancreatic intraepithelial neoplasm, or PanIN) and cancerous states. (pancan.org)
  • There are multiple types of myeloproliferative neoplasms, which are categorized by the cells affected. (nebula.org)
  • We, therefore, utilized a two stage initiation/promotion protocol to determine whether inhaled MWCNT act as a complete carcinogen and/or promote the growth of cells with existing DNA damage. (cdc.gov)
  • The order of these pairs in the DNA chains forms the so-called genetic code. (nytimes-se.com)
  • Overall, these variants may explain over 18% of the total genetic risk for developing myeloproliferative neoplasms. (nebula.org)
  • JAK2 rs10974944 is associated with both V617F-positive and negative myeloproliferative neoplasms in a Vietnamese population: A potential genetic marker. (cdc.gov)
  • Southern analysis of tumour DNA revealed that 2/29 tumours demonstrated amplification of the MDM2 gene. (nih.gov)
  • The terms 'neoplasm' and 'tumour' are used interchangeably. (who.int)
  • Significant differences in survival were revealed when comparison was made with developing countries, for people with cancers that can be successfully treated by chemotherapy (malignant lymphomas, leukaemia, testicular tumours) and modest differences for neoplasms that can be cured by early detection and surgical intervention. (who.int)
  • This study on 279 tumours of the salivary glands was conducted to analyse whether the assessment of DNA ploidy by flow cytometry may assist histopathology in discriminating benign from malignant types of tumours. (researchgate.net)
  • The most obvious value of DNA flow cytometry in salivary gland tumours is thus its contribution to assist histopathology in identifying potentially malignant lesions. (researchgate.net)
  • Neoplasms that arise in the salivary glands are relatively rare, yet they represent a wide variety of both benign and malignant histologic subtypes as seen in the image below. (medscape.com)
  • the induction of benign neoplasms may in some circumstances (see Section 9) contribute to the judgement that the exposure is carcinogenic. (who.int)
  • A method to assess the risk of translocations after patient exposures to DNA damaging chemotherapy and radiations would inform therapeutic decisions. (cancer.gov)
  • In general, salivary gland neoplasms respond poorly to chemotherapy, and adjuvant chemotherapy is currently indicated only for palliation. (medscape.com)
  • The differences of hemogram, myelogram, and driver gene mutations in classic myeloproliferative neoplasms. (cdc.gov)
  • Vascular Endothelial Dysfunction in Myeloproliferative Neoplasms and Gene Mutations. (cdc.gov)
  • Abnormal DNA content has been related to aggressive behavior in Mucoepidermoid Carcinomas (MEC), Adenoid Cystic Carcinomas (AdCC), Acinic Cell Carcinomas (ACC) and oncocytomas (Onc) [8]. (researchgate.net)
  • Introduction: CHEK2 mutations are associated with increased risk of having neoplasms of various organs, including thyroid, breast, colon, renal and ovarian cancers. (endocrine-abstracts.org)
  • Previous studies have demonstrated that DNA damage-inducible transcript 4 (DDIT4), Trib3 (tribbles pseudo kinase 3), alpha-synuclein (α-syn) are involved in METH-induced dopaminergic neurotoxicity. (cancerindex.org)
  • The DNA Repair Interest Group is concerned with all forms of DNA damage and repair. (nih.gov)
  • Specifically, he is addressing how tissue architecture and nuclear organization regulate the DNA damage response. (cancer.gov)
  • Here, the rolling circle amplification method, termed rolling circle enhanced enzyme activity detection (REEAD) assay that allows for the quantitative measurement of topoisomerase 1 (TOP1) activity in a simple, fast, and gel-free manner is presented.By cleaving and ligating a specially designed DNA substrate, TOP1 converts a DNA oligonucleotide into a closed circle, which becomes the template for rolling circle amplification, yielding ~103 tandem repeat rolling circle products. (au.dk)