Sequences dna neoplasm. Medical search. Frequent questions

Over the years, epidemiological data were scarce because of the large number of involved genes, whose screening was not cost-effective until implementation of massively parallel DNA sequencing. (nih.gov)
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)
MTS results from defects in DNA mismatch repair genes, MLH1, MSH2, and MSH6, leading to a buildup of unstable microsatellite sequences and replication errors predisposing to various malignancies. (wikipedia.org)
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)
Whole-genome sequencing is now possible at a reasonable cost and timeframe to use this approach for the unbiased discovery of tumour-specific somatic mutations that alter the protein-coding genes. (wustl.edu)
Our study establishes whole-genome sequencing as an unbiased method for discovering cancer-initiating mutations in previously unidentified genes that may respond to targeted therapies. (wustl.edu)
These tests, such as polymerase chain reaction (PCR) and DNA sequencing, look for abnormal changes in the genes, chromosomes, proteins or other molecules within the patient's cancer cells. (lls.org)
Epigenetics directly affects the timing and expression of genes without changing the DNA sequence itself. (pancan.org)
Complexes formed between DNA and cationic polymers are attracting increasing attention as novel synthetic vectors for delivery of genes. (ox.ac.uk)
When comparing 14 near-to-complete genome sequences, our results estimated the theoretical Naegleria pangenome as a closed genome, with 13,943 genes, including 3,563 core and 10,380 accessory genes. (cdc.gov)
The functional annotations revealed that a large fraction of Naegleria genes show significant sequence similarity with those already described in other kingdoms, namely Animalia and Plantae. (cdc.gov)

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)
We hypothesized that integrating DNA-WES and RNA-seq would enable superior mutation detection versus DNA-WES alone. (usuhs.edu)
Validation by patient-matched whole genome sequencing demonstrated superior performance of the integrated model over DNA-WES only models, including a published method and published mutation profiles. (usuhs.edu)
Low purity tumors experienced the largest gains in mutation detection by integrating RNA-seq and DNA-WES. (usuhs.edu)
RNA provided greater mutation signal than DNA in expressed mutations. (usuhs.edu)
In summary, integrating RNA-seq with DNA-WES increases mutation detection performance, especially for low purity tumors. (usuhs.edu)
Sequencing of exon 13 identified mutation c.2372A>T in codon 791 (Y791F) in heterozygous state in one of 100 GBM patients, in two of 65 patients with gastric cancer, in two of 54 PDAC patients and in none of the controls. (shengsci.com)
Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden. (ox.ac.uk)
This mutation is found in approximately 95% of patients with PV, as well as in some patients with other kinds of myeloproliferative neoplasms (MPN). (cdc.gov)

Tumor genetic sequencing identifies potentially targetable genetic alterations with therapeutic implications. (nih.gov)
To estimate the burden of germline variants identified through routine clinical tumor sequencing. (nih.gov)
Patients with advanced cancer diagnoses eligible for studies of targeted agents at Memorial Sloan Kettering Cancer Center are offered tumor-normal sequencing with MSK-IMPACT, a 341-gene panel. (nih.gov)
Germline variants are common in individuals undergoing tumor-normal sequencing and may reveal otherwise unsuspected syndromic associations. (nih.gov)
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)
Due to the rarity of this tumor and variability in clinical and histological presentation, SGc is often misdiagnosed as an inflammatory condition or a more common neoplasm. (wikipedia.org)
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)
In this study we perform tumor and normal whole exome sequencing (WES) on 32 pediatric primary MDS patients and targeted sequencing on another 14 cases through a single institution study focused on defining the genomic landscape of pediatric MDS. (nature.com)
Data from whole transcriptome sequencing of 33 breast specimens in the Harbin Medical University Cancer Center cohort and The Cancer Genome Atlas was applied to identify and validate the landscape of tumor suppressor long noncoding RNAs, which was further validated by The Cancer Genome Atlas pancancer data including 33 cancer types and 12,839 patients. (cancerindex.org)
This data suggests that liquid biopsy combining analysis of cfRNA with cfDNA is practical and may provide helpful information in predicting genomic abnormalities, diagnosis of neoplasms and evaluating both the tumor biology and the host response. (bvsalud.org)
The association between copy number aberration, DNA methylation and gene expression in tumor samples. (unc.edu)
ASO Author Reflections: Can Circulating Tumor DNA Guide Individualized Treatment for Patients with Esophageal Squamous Cell Carcinoma? (elsevierpure.com)

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)
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)
Moreover, these long noncoding RNAs were transcriptionally regulated by epigenetic modification, including DNA methylation and histone methylation modification. (cancerindex.org)
Current use of liquid biopsy is based on cell-free DNA (cfDNA) and the evaluation of mutations or methylation pattern. (bvsalud.org)
Whole-exome sequencing and genome-wide methylation analyses identify novel disease associated mutations and methylation patterns in idiopathic. (oncotarget.com)
We analyzed purified eosinophils from patients with IHES by next-generation whole-exome sequencing and compared DNA methylation profiles from reactive eosinophilic conditions to known clonal and suspected clonal eosinophilia. (oncotarget.com)
In addition, we identified a DNA methylation signature that is relevant for distinguishing clonal and suspected clonal eosinophilia from reactive eosinophilia per se , which may be useful in daily clinical work. (oncotarget.com)
To address this aim we have designed the lungNENomics study, an international cohort of over 250 cases of pulmonary carcinoids, with clinical data and central pathology review, as well as whole-genome sequencing, RNA sequencing, DNA methylation array, and digital spatial profiling data. (who.int)

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)
We developed a first-of-its-kind method, called UNCeqR, that detects somatic mutations by integrating patient-matched RNA-seq and DNA-WES. (usuhs.edu)
It is hoped that some of the insights from yeast will aid the interpretation of sequence changes found in tumors, especially in the urgent necessity to distinguish 'driver' from 'passenger' mutations. (nih.gov)
Integrative analysis of sequencing and array genotype data for discovering disease associations with rare mutations. (unc.edu)
Next-generation sequencing (NGS)-based comprehensive analysis of human and EBV genomes in CAEBV identified the presence of somatic driver mutations in the human genome and large intragenic deletions in the viral genome. (yusukeokuno.com)
ALL is the most frequent childhood neoplasm characterized by the most various somatic and germline mutations among cancers. (yusukeokuno.com)
Here we use whole-genome sequencing to identify somatic mutations and chromosomal changes in 14 bladder cancers of different grades and stages. (ox.ac.uk)

Here, we describe the somatic and germline changes of pediatric MDS using whole exome sequencing, targeted amplicon sequencing, and/or RNA-sequencing of 46 pediatric primary MDS patients. (nature.com)
Sequencing data from the St. Jude Lifetime Cohort is part of the St. Jude Cloud, a dataset encompassing thousands of genome, exome, and RNA sequences that is open to other members of the research community that officially launched in 2018 . (genomeweb.com)
RNA sequencing (RNA-seq) covers the expressed exome with depth proportional to expression. (usuhs.edu)
Whole exome sequencing of adenoid cystic carcinoma. (ox.ac.uk)
We have undertaken exome sequencing in a series of 24 ACC to further delineate the genetics of the disease. (ox.ac.uk)
We use a combination of state-of-the-art genomic methods, including whole genome, RNA and Exome sequencing as well as single-cell DNA and RNA-sequencing and leukemia mouse models in our work. (lu.se)

The information in this article contains billing, coding or other guidelines that complement the Local Coverage Determination (LCD) for MolDX: Next Generation Sequencing for Solid Tumors L38045. (cms.gov)
The integration of mass spectrometry-based proteomics with next-generation DNA and RNA sequencing profiles tumors more comprehensively. (wustl.edu)
Using machine learning we demonstrate cfRNA was highly predictive of diagnosis (AUC >0.98) of solid tumors, B-cell lymphoid neoplasms, T-cell lymphoid neoplasms, and myeloid neoplasms. (bvsalud.org)
RNA samples from hematologic neoplasms (N = 2606), solid tumors (N = 2038), normal bone marrow (N = 782), and lymph node control (N = 24) were sequenced using next-generation sequencing using a targeted 1408-gene panel. (bvsalud.org)
There were 20 subtypes of hematologic neoplasms and 24 subtypes of solid tumors. (bvsalud.org)

A combination of immunohistochemistry, DNA sequencing and FISH were used to study BRAF, ATRX, CDKN2A/p16, mutant IDH1 p.R132H and H3-K27M proteins. (elsevierpure.com)

Acetylproteome analysis highlighted acetylation on key nuclear proteins involved in the DNA damage response and revealed cross-talk between cytoplasmic and mitochondrial acetylation and metabolism. (wustl.edu)
Epigenetic regulation refers to the multiple chemical modifications of DNA or DNA-associated proteins that alter chromatin structure and DNA accessibility in a heritable manner, without changing DNA sequence. (frontiersin.org)
E proteins made by the viral genome promote the activation of host DNA replication mechanisms that can then be used by the virus during its own replication. (medscape.com)

Similarly, cfRNA lymphoid markers and cfRNA myeloid markers were all higher in lymphoid and myeloid neoplasms, respectively as compared with control (P (bvsalud.org)

Despite these recognised benefits, long-standing concerns regarding the risks of mutagenic and potentially carcinogenic drug exposure have hampered efforts for broad hydroxyurea use in SCA, although these are based largely on outdated experimental models and treatment experiences with myeloproliferative neoplasms. (cdc.gov)

A systematic review and meta-analysis of somatic and germline DNA sequence biomarkers of esophageal cancer survival, therapy response and stage. (cdc.gov)
There is a great need to find molecular biomarkers predicting increased progression risk in GERD-Barrett's metaplasia-dysplasia-adenocarcinoma sequence to improve risk assessment and stratification of patients to surveillance program. (who.int)

mean age 58 years) using single stranded conformation polymorphism and sequence analysis. (lu.se)
MASS: meta-analysis of score statistics for sequencing studies. (unc.edu)
Meta-analysis of sequencing studies with heterogeneous genetic associations. (unc.edu)
Sequence variations at -5 and -1 in the promotor and in exon 2 were determined through a LightCycler assay, and analysis of exon 13 was carried out by genomic sequencing. (shengsci.com)
These data have been combined with previously published LNET data to perform integrative analysis using multi-omics factor analysis (MOFA), resulting in a molecular map of lung neuroendocrine neoplasms for exploration. (who.int)
The authors would like to acknowledge Clinical Genomics Lund, SciLifeLab and Center for Translational Genomics (CTG), Lund University, for providing expertise and service with sequencing and analysis. (lu.se)

In contrast, other studies using targeted sequencing of children with idiopathic bone marrow failure or MDS found pathogenic variants in only approximately 10% of patients 16 , suggesting the need for more comprehensive sequencing. (nature.com)
A general framework for detecting disease associations with rare variants in sequencing studies. (unc.edu)

In the 1990s Botstein, having moved to Stanford University School of Medicine, collaborated with Patrick O. Brown of Stanford in exploiting DNA microarrays to study genome-wide gene expression patterns in yeast and in human cancers. (nih.gov)

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)
We performed next generation sequencing on a cohort of 77 pediatric patients with diagnoses of primary MDS ( n = 46), MDS/MPN ( n = 23, 19 of which were JMML), and AML-MRC ( n = 8) (Fig. 1 , Supplementary Data # 1 and Supplementary Fig. 1 ). (nature.com)
Immunoglobulin Heavy Chain High-Throughput Sequencing in Pediatric B-Precursor Acute Lymphoblastic Leukemia: Is the Clonality of the Disease at Diagnosis Related to Its Prognosis? (frontiersin.org)
B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is the most common pediatric neoplasm ( 1 , 2 ). (frontiersin.org)

In addition, the promoter 4G/5G polymorphism was investigated by both allele-specific PCR and direct DNA sequencing. (korea.ac.kr)

Paclitaxel protein bound is a microtubular inhibitor (albumin-conjugated formulation) and a natural taxane that prevents depolymerization of cellular microtubules, which results in DNA, RNA, and protein synthesis inhibition. (medscape.com)
To date, most of our understanding of epigenetic regulation and its participation in leukemogenesis is based on the enzymatic activities and protein-protein interactions of histone and DNA modifiers. (frontiersin.org)
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)
E1 protein has helicase activity for replication, and E2 encodes DNA-binding protein for regulation of transcription. (medscape.com)

METHODS:Genomic DNA from peripheral blood was isolated from 100 patients with GBM, 65 patients with GC and 54 patients with PDAC. (shengsci.com)

The cell line was established and authenticated by assessing DNA microsatellite short tandem repeats. (cancer-genetics.org)

These findings further support the concept that PA with anaplasia is a neoplasm with heterogeneous genetic features and alterations typical of both PA and diffuse gliomas. (elsevierpure.com)

Acute myeloid leukemia is a hematopoietic neoplasm of dismal prognosis that results from the accumulation of immature myeloid blasts in the bone marrow and the peripheral blood. (frontiersin.org)

Much has been learned about adult MDS through next-generation DNA sequencing. (nature.com)
Next-generation sequencing: Hype and hope for development of personalized radiation therapy? (uni-luebeck.de)
Dive into the research topics of 'Next-generation sequencing: Hype and hope for development of personalized radiation therapy? (uni-luebeck.de)
We developed an approach to isolate cell-free total nucleic acid (cfDNA) and used targeted next generation sequencing to sequence cell-free RNA (cfRNA) and cfDNA as new approach in liquid biopsy. (bvsalud.org)
RNA expression profiling using next-generation sequencing provides reliable and reproducible information on the biology of cancer. (bvsalud.org)
The locus at chromosome 1q21 was identified by linkage mapping in 1998, but the gene has only recently been discovered due to difficulty with sequencing this highly repetitive region and was previously missed using next-generation sequencing. (medscape.com)

SGc accounts for approximately 0.7% of all skin cancers and 0.2 to 4.6% of all malignant cutaneous neoplasms. (wikipedia.org)
commonly presents as a painless, red and brown or red and yellow, ulcerated papule on the head or neck and may mimic nonmelanoma skin cancers, molluscum contagiosum, adnexal neoplasms, or pyogenic granuloma. (wikipedia.org)
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)

High-throughput sequencing (HTS) of the immunoglobulin heavy chain ( IgH ) locus is a recent very efficient technique to monitor minimal residual disease of B-cell precursor acute lymphoblastic leukemia (BCP-ALL). (frontiersin.org)

He hopes to continue to leverage multiplatform sequencing approaches to refine existing codification schemes and develop assays that can be translated to clinical neuropathology and neurooncology practice. (hopkinsmedicine.org)
The international consensus guidelines for intraductal papillary mucinous neoplasm of the pancreas (IPMN) presented clinical features as indications for surgery. (biomedcentral.com)

Fluorouracil has some effect on DNA and is useful in symptom palliation for patients with progressive disease. (medscape.com)

Unlike sequence-specific transcription factors, epigenetic regulators do not necessarily bind DNA at consensus sequences, but still achieve reproducible target binding in a manner that is cell and maturation-type specific. (frontiersin.org)
A growing body of evidence indicates that epigenetic regulators rely, amongst other factors, on their interaction with untranslated RNA molecules for guidance to particular targets on DNA. (frontiersin.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)

It also reveals the sequences of clonal rearrangements, therefore, the multiclonal structure, of BCP-ALL. (frontiersin.org)

MTS is an autosomal dominant cancer syndrome characterized by multiple sebaceous and visceral neoplasms, the most common being colorectal adenocarcinoma. (wikipedia.org)

HPV is now known to be a small deoxyribonucleic acid (DNA) virus that infects epithelial cells and causes a variety of skin lesions. (medscape.com)

Variations of this method enabled the sequencing phase of the Human Genome Project. (nih.gov)

Polycythemia vera is a myeloproliferative neoplasm characterized by increased production of red blood cells and often other blood cell lines. (cdc.gov)

Novel vectors for gene delivery formed by self-assembly of DNA with poly(L-lysine) grafted with hydrophilic polymers. (ox.ac.uk)

Here we present the results obtained from sequencing a typical acute myeloid leukaemia genome, and its matched normal counterpart obtained from the same patient's skin. (wustl.edu)
The genotoxicity results clearly demonstrate that hydroxyurea does not directly bind DNA and is not mutagenic. (cdc.gov)

We have studied the transgenic mouse strain, Tyrp-1-TAg, to try to gain insight into possible molecular mechanisms common to pigmented ocular neoplasms occurring spontaneously in the eyes of these mice and human choroidal melanoma. (molvis.org)

Anatomy2

Organisms2

Diseases206

Chemicals and Drugs10

Analytical, Diagnostic and Therapeutic Techniques and Equipment26

Phenomena and Processes6

Disciplines and Occupations2

Information Science4

Health Care5

Genes14

Mutation9

Tumor13

Methylation10

Mutations7

Exome6

Tumors5

Immunohistochemistry1

Proteins3

Myeloid neoplasms1

Myeloproliferative neoplasms1

Biomarkers2

Analysis6

Variants2

Genome-wide1

Pediatric4

Polymorphism1

Protein5

Genomic1

Microsatellite1

Heterogeneous1

Bone marrow1

Next-generation6

Cancers3

Acute lymphobl1

Clinical2

Patients1

Epigenetic3

Reveals1

Adenocarcinoma1

Deoxyribonucleic Acid1

Variations1

Polycythemia1

Gene1

Results2

Mechanisms1