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ChromosomesChromosome MappingGenomic InstabilityChromosomal InstabilityChromosome BandingX ChromosomeChromosome AberrationsJoint InstabilityChromosomes, Human, Pair 1Sex ChromosomesChromosomes, HumanChromosome SegregationChromosomes, BacterialChromosomes, Human, Pair 11Chromosomes, Human, Pair 17Chromosomes, Human, Pair 7Chromosome DeletionChromosomes, Human, Pair 9Chromosomes, Human, Pair 6Chromosomes, FungalChromosomes, Human, Pair 21Chromosomes, PlantChromosomes, Human, 6-12 and XChromosomes, Human, Pair 2Chromosomes, Human, Pair 16Chromosomes, Human, Pair 13Chromosomes, Human, Pair 22Chromosomes, MammalianChromosomes, Human, Pair 4Chromosome PairingKaryotypingChromosomes, Human, Pair 10Microsatellite InstabilityChromosome DisordersIn Situ Hybridization, FluorescenceChromosomes, Human, Pair 8Chromosomes, Human, Pair 19Chromosomes, Human, YChromosomes, Human, Pair 5Chromosome PaintingChromosomes, Human, XChromosomes, Artificial, BacterialMicrosatellite RepeatsChromosomes, Human, Pair 12Chromosomes, Human, 1-3Chromosomes, Human, Pair 18Chromosomes, Human, Pair 14Chromosomes, Human, Pair 15Chromosome BreakageChromosomes, Human, Pair 20Chromosomes, Artificial, YeastChromosomes, Human, 16-18Chromosomes, Human, 13-15Genetic LinkageMutationAneuploidyGenetic MarkersChromosomes, Human, 21-22 and YMolecular Sequence DataRing ChromosomesBase SequenceNeoplasmsChromosome InversionPancreatic NeoplasmsChromosome PositioningChromosomes, Human, 4-5MitosisTranslocation, GeneticDNA, NeoplasmCentromereX Chromosome InactivationRecombination, GeneticPhenotypeMeiosisHybrid CellsMetaphaseChromosomes, InsectAllelesChromosome StructuresChromosomes, Human, 19-20Loss of HeterozygosityNeoplasms, Cystic, Mucinous, and SerousPedigreeTelomereDNA, SatelliteCrosses, GeneticPolymerase Chain ReactionChromosome FragilityDNASkin NeoplasmsNuclear ProteinsLod ScoreDNA-Binding ProteinsNeoplasms, Multiple PrimaryCloning, MolecularModels, GeneticNucleic Acid HybridizationSpindle ApparatusDNA ReplicationKidney Neoplasms
GenomicChromosomalBreast NeoplasmsAberrationsMyeloid neoplasmsGenome instabilityMutationTumorStructure of chromosomesDeletionGenesDouble minute chromosomesAmplificationGenetic instabilityPairClonalMitoticHematologic NeoplasmsHematopoietic NeoplasmsMyeloproliferative neoplasmsMalignantDisordersAbnormalPredisposition to malignanciesMutationsCytokinesis failureColorectalCancerMicroarrayClinicalApoptosisKaryotypeMitosisAbnormalitiesCancersHumanFragments
Genomic14
  • It detects genomic copy number variations at a higher resolution for level than conventional karyotyping or chromosome-based comparative genomic hybridization (CGH). (wikipedia.org)
  • This case study reports a rare double minute chromosome via FLT3 amplification in CMML by using array-based comparative genomic hybridization and fluorescence in situ hybridization analyses. (hindawi.com)
  • Mammary tumors lacking p53 display less fibrotic histopathology and increased genomic instability with aneuploidy, amplifications, and deletions, as detected by karyotype analysis and comparative genomic hybridization. (elsevierpure.com)
  • Genomic instability creates a permissive state in which a potential cancer cell is allowed to acquire enough mutations to become a cancer cell. (proteinlounge.com)
  • Several forms of genomic instability are common in colon cancer: MSI (Microsatellite Instability), CIN (Chromosome Instability), and chromosome translocations. (proteinlounge.com)
  • The samples were divided for analysis according to the type of genomic instability that they exhibit, microsatellite instability (MSI) or chromosomal instability (CIN). (ox.ac.uk)
  • Aberrant activation of multiple intracellular signaling pathways has been exhibited in response to the presence of BCR-ABL resulting in accelerated cell cycle progression and inhibition of DNA repair which lead to abnormal maturation and genomic instability of hematopoietic stem cells [5]. (healthcarecoremeasures.com)
  • The mechanisms underlying the transition between phases are unclear but the loss of differentiation is usually accompanied by increased BCR-ABL expression genomic instability and the appearance Dihydroartemisinin of additional chromosomal abnormalities most commonly double Ph chromosome chromosome 8 and 19 trisomies and isochromosome 17q [10]. (healthcarecoremeasures.com)
  • For this patient, we hypothesized that an altered FA pathway resulted in genomic instability, hypersensitivity to DNA-crosslinking agents or cytotoxic chemotherapeutics, and unsuccessful DNA damage repair. (frontiersin.org)
  • In contrast, increasing genomic instability by combining deficiencies of Atm and the mismatch repair protein Mlh1 caused a moderate increase in radiation sensitivity and dramatic increase in aggressive lymphomas, compared with thes Atm-/- single knockout. (wustl.edu)
  • The genomic region on chromosome 15, which contains the gene for the c-Myc oncoprotein, was commonly amplified, and elevated levels of the c-Myc protein were subsequently observed in the tumors. (wustl.edu)
  • Our data suggest that impaired genomic instability is an important contributing factor to cancer predisposition in A-T, whereas oxidative stress is more important in the radiation sensitivity and growth retardation facets of this disease. (wustl.edu)
  • Mutated p53 shows impaired DNA-binding and, consequently, release from cell cycle checkpoint control following DNA damage, thereby increasing genomic instability and promoting gene amplification. (nordiqc.org)
  • 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)
Chromosomal13
  • Role of chromosomal instability and clonal heterogeneity in Breast Cancer: a pilot study. (urosario.edu.co)
  • Chromosomal instability (CI), defined as cell-to-cell variability in the number or structure of chromosomes, has been recognized as a hallmark of cancer and a source of genetic variation (clonal heterogeneity - HC) that favors tumor adaptation to stressful environments. (urosario.edu.co)
  • Chromosomal instability, clonal heterogeneity, Breast Cancer. (urosario.edu.co)
  • Of specific chromosomal alterations, a possible association between loss of chromosome 8p11 and the risk of progression was found. (researchhunt.com)
  • Conclusion Chromosomal instability (CI) was associated with "high risk" tumors (stage T1 or high-grade), but did not predict subsequent progression. (researchhunt.com)
  • Dysfunction of this system leads to chromosomal instability (CI), a key event of malignant tumor development [6]. (researchhunt.com)
  • The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. (lookformedical.com)
  • A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. (lookformedical.com)
  • Bone marrow biopsies revealed patchy tumor involvement and he was treated with the ANHL1131 protocol at reduced dose given his chromosomal instability and has been in remission for 6 years. (biomedcentral.com)
  • Chromosomal aberrations in the tumors were localized mainly in chromosomes 12 and 15. (wustl.edu)
  • Dr. Hsu's research interest is to investigating the oncogenic mechanisms that induce DNA damage, chromosomal instability, mitotic catastrophe, neoplastic multinucleation, tumor progression, metastasis and microenvironment. (nhri.org.tw)
  • Consequently, the incidences of nuclear aberration and chromosomal instability are dramatically increased. (nhri.org.tw)
  • Chromosomal translocations involving chromosome bands 5q31-33 that contain the gene encoding the platelet-derived growth factor beta receptor (PDGFRB) are associated with a significant minority of patients with BCR/ABL1-negative chronic myeloid neoplasms. (atlasgeneticsoncology.org)
Breast Neoplasms1
Aberrations3
Myeloid neoplasms5
  • Some case reports identified MYC or MLL gene amplification performing as dmin in myeloid neoplasms. (hindawi.com)
  • FLT3 ( FMS -related tyrosine kinase 3) acts as an oncogene in myeloid neoplasms which is associated with several signal transduction pathways. (hindawi.com)
  • Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are myeloid neoplasms characterized by the presentation of overlapping features from both myelodysplastic syndromes and myeloproliferative neoplasms. (encyclopedia.pub)
  • Although the classification of MDS/MPN relies largely on clinical features and peripheral blood and bone marrow morphology, studies have demonstrated that a large proportion of patients (~90%) with this disease harbor somatic mutations in a group of genes that are common across myeloid neoplasms. (encyclopedia.pub)
  • Phenotypically diverse myeloid neoplasms that include patients that have been categorized as: chronic eosinophilic leukemia (CEL)/ atypical chronic myeloid leukemia with eosinophilia in 4 (Luciano et al. (atlasgeneticsoncology.org)
Genome instability6
  • Genome instability and aging: Cause or effect? (elsevierpure.com)
  • Genome instability, i.e., the tendency of the genome to undergo alterations in DNA information content through mutation, is considered a hallmark of aging. (elsevierpure.com)
  • Here we briefly review the mechanisms of genome instability in normal cells, the accumulation of various types of genome instability with age and their possible physiological consequences. (elsevierpure.com)
  • Dive into the research topics of 'Genome instability and aging: Cause or effect? (elsevierpure.com)
  • It is a form of genome instability associated with defects in DNA MISMATCH REPAIR. (lookformedical.com)
  • Ataxia telangiectasia (AT) is a rare multisystem, autosomal, recessive disease characterised by neuronal degeneration, genome instability, and an increased risk of cancer. (bmj.com)
Mutation1
Tumor4
  • Colon cancers with high-frequency microsatellite instability (MSI-H) develop frameshift mutations in tumor suppressors as part of their pathogenesis. (nih.gov)
  • In one tumor, the amplified region of chromosome 7 had an ectopically expressed int-2/FGF3 proto-oncogene, a gene known to cooperate with Wnt-1 in the production of mammary tumors. (elsevierpure.com)
  • Overall, 60% of germ cell neoplasms have seminoma in their composition, but pure seminomas are genetically different from those that present as a component of a mixed tumor. (medscape.com)
  • Tumor surveillance (central nervous system neoplasms and rhabdomyosarcoma) is important as well. (medscape.com)
Structure of chromosomes1
Deletion1
  • Loss of chromosome 18q was a recurrent finding along with deletion of discrete regions such as chromosome 4q34-q35. (ox.ac.uk)
Genes1
Double minute chromosomes4
Amplification5
  • CONCLUSION: The development of CRC liver metastases is associated with amplification of chromosome 20q and not driven by mutations in the PI(3)K signalling pathway. (lu.se)
  • Consistent copy number changes were identified, including gain of chromosomes 20, 13, and 8q and smaller regions of amplification such as chromosome 17q11.2-q12. (ox.ac.uk)
  • In addition, the target of amplification on chromosome 8q appeared to differ, with 8q24.21 amplified frequently in CIN+ samples but 8q24.3 amplification a common finding in MSI+ samples. (ox.ac.uk)
  • Centrosome amplification and chromosome abnormality are frequently identified in n eoplasia and tumorigenesis. (nhri.org.tw)
  • Furthermore, loss-function p53 alongside MCT-1 overexpression promote pleiotropic mitotic catastrophes, including centrosome amplification, chromosome missegregation, and cytokinesis failure. (nhri.org.tw)
Genetic instability2
  • p53 binding decreases its control with cell proliferation and increases genetic instability, leading to neoplastic transformation. (nordiqc.org)
  • and (3) understanding the genetic mechanisms causing genetic instability and clonal evolution. (lu.se)
Pair1
  • In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). (lookformedical.com)
Clonal3
  • Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) constitute a heterogeneous group of clonal myeloid malignancies with clinical, laboratory, morphologic and genetic features that overlap with myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN). (encyclopedia.pub)
  • Clonal studies in the chronic myeloid disorders - Genetic and enzyme studies based upon X-chromosome inactivation patterns have revealed a multipotent progenitor cell origin for the neoplastic clone in both MDS [ 8 ] and MPN [ 9 ]. (medilib.ir)
  • Therefore, X-chromosome-based clonal assays might not be adequate in detecting a minor clonal population against a polyclonal background. (medilib.ir)
Mitotic5
  • Mechanistically, the CIP2A-TOPBP1 complex prematurely associates with DNA lesions within ruptured micronuclei during interphase, which poises pulverized chromosomes for clustering upon mitotic entry. (nature.com)
  • Mitotic clustering facilitates the reassembly of acentric fragments into rearranged chromosomes lacking the extensive DNA copy-number losses that are characteristic of canonical chromothripsis. (nature.com)
  • The maintenance of a single centromere per chromosome is critical for establishing bipolar microtubule attachments to the mitotic spindle and achieving high-fidelity genome segregation 17 . (nature.com)
  • Targeting MCT-1 results in intercellular bridging, chromosome mis-segregation, cytokinesis delay and post-mitotic death. (nhri.org.tw)
  • FoxM1 is required for execution of the mitotic programme and chromosome stability. (knaw.nl)
Hematologic Neoplasms1
  • The Cytogenetics of Hematologic Neoplasms / Aurelia Meloni-Ehrig -- The Cytogenetics of Solid Tumors / Linda D. Cooley, Kathleen S. Wilson -- Part V. Adjunct Technologies -- Fluorescence In Situ Hybridization (FISH) / Daynna J. Wolff -- Microarray-Based Cytogenetics / Lisa G. Shaffer -- Part VI. (edu.au)
Hematopoietic Neoplasms2
  • Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers. (cdc.gov)
  • This case highlights the importance of genetic counseling in patients with hematopoietic neoplasms with high clinical suspicion for carrying cancer susceptibility gene mutations, which require timely diagnosis and personalized management. (frontiersin.org)
Myeloproliferative neoplasms4
  • Genetic Aspects of Myelodysplastic/Myeloproliferative Neoplasms" Encyclopedia , https://encyclopedia.pub/entry/10288 (accessed December 10, 2023). (encyclopedia.pub)
  • INTRODUCTION - An overview of the four classic myeloproliferative neoplasms (MPN): polycythemia vera, essential thrombocythemia, primary myelofibrosis, and chronic myeloid leukemia will be presented here. (medilib.ir)
  • Myeloproliferative neoplasms (MPN), unlike MDS, usually exhibit terminal myeloid cell expansion in the peripheral blood [ 7 ]. (medilib.ir)
  • Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) include disorders that manifest both dysplastic and proliferative features. (medilib.ir)
Malignant4
  • Neoplasms of the pancreas encompass a wide spectrum of benign and malignant tumors. (proteinlounge.com)
  • Pancreatic adenocarcinoma, the malignant neoplasm of the exocrine duct cells, accounts for more than ninety percent of all pancreatic tumors (Ref.1). (proteinlounge.com)
  • Although malignant tumors of the main papilla are more common, a number of benign neoplasms also may arise in the periampullary area, including benign adenomas (tubular and villous), lipomas, hamartomas, fibromas, and neurogenic tumors. (medscape.com)
  • Soft tissue tumors (STT) constitute a heterogeneous group of approximately 100 distinct neoplasms, including more than 50 malignant subtypes, so-called sarcomas. (lu.se)
Disorders4
  • These studies implicate a potential mechanism suppressing the loss of genetic material after chromosome pulverization, although how distinct patterns of rearrangements arise in cancer and germline disorders remains unclear. (nature.com)
  • Autosomal Aneuploidy / Jin-Chen C. Wang -- Structural Chromosome Rearrangements / Kathleen Kaiser-Rogers, Kathleen W. Rao -- Sex Chromosomes, Sex Chromosome Disorders, and Disorders of Sex Development / Cynthia M. Powell -- The Cytogenetics of Infertility / Linda Marie Randolph -- Prenatal Cytogenetics / Linda Marie Randolph -- The Cytogenetics of Spontaneous Abortion / Solveig M.V. Pflueger, -- Chromosome Instability / Xiao-Xiang Zhang, -- Part IV. (edu.au)
  • In pediatric patients with predisposition to malignancies, such as those with underlying chromosome instability disorders, all symptoms must be carefully considered. (biomedcentral.com)
  • Underlying genetic chromosome instability disorders, such as Nijmegen breakage syndrome (NBS), Ataxia telangiectasia, Fanconi anemia, and Bloom syndrome, can predispose pediatric patients to malignancy and clinicians should consider diagnostic testing in these patients Footnote 3 . (biomedcentral.com)
Abnormal1
  • In patients with unexplained anemia, thrombocytopenia, or neutropenia without dysplasia in the bone marrow but with abnormal chromosome activity in 5, 7 or 13 the diagnosis is consistent with MDS and occurs in less than 10% of patients with MDS. (standardofcare.com)
Predisposition to malignancies1
  • Ataxia telangiectasia (AT) is a rare autosomal recessive disease, characterised by cerebella ataxia, immunodeficiency, increased sensitivity to ionising radiation, and a predisposition to malignancies, especially lymphoid neoplasms. (bmj.com)
Mutations2
  • RESULTS: All samples were analysed for DNA copy number changes, PIK3CA, KRAS, BRAF mutations, CIMP and microsatellite instability. (lu.se)
  • The primary CRCs of the LM group had significantly higher frequency of amplified chromosome 20q (P=0.003), significantly fewer mutations in the PI(3)K signalling pathway (P=0.003) and fewer CIMP high tumours (P=0.05). (lu.se)
Cytokinesis failure1
  • Remarkably, increases in chromosome copy number, multinucleation, and cytokinesis failure are also promoted while MCT-1 is induced in p53-deficient cells. (tmu.edu.tw)
Colorectal1
  • African Americans (AA) are at a higher risk of colorectal cancer (CRC) and some studies report a higher frequency of microsatellite instability (MSI) in this population while others report lower frequency compared to Caucasians. (oncotarget.com)
Cancer1
  • Background Non-muscle invasive bladder neoplasms with invasion of the lamina propria (stage T1) or high grade of dysplasia are at "high risk" of progression to life-threatening cancer. (researchhunt.com)
Microarray1
  • Other terms used to describe the arrays used for karyotyping include SOMA (SNP oligonucleotide microarrays) and CMA (chromosome microarray). (wikipedia.org)
Clinical3
  • History of Clinical Cytogenetics / Steven L. Gersen -- DNA, Chromosomes, and Cell Division / Martha B. Keagle -- Human Chromosome Nomenclature: An Overview and Definition of Terms / Marilyn L. Slovak, Aaron Theisen, Lisa G. Shaffer -- Part II. (edu.au)
  • In this thoroughly revised and expanded third edition of the highly praised classic, The Principles of Clinical Cytogenetics, a panel of hands-on experts update their descriptions of the basic concepts and interpretations involved in chromosome analysis to include the many advances that have occurred in the field. (edu.au)
  • Genetic analyses have shown that the clinical and biological variation among these neoplasms is reflected in their genotypes. (lu.se)
Apoptosis1
  • FLT3 (FMS-related tyrosine kinase 3) located on chromosome 13q12.2 encodes a receptor tyrosine kinase (RTK) that activates the Ras and PI3 kinase pathway leading to the increased proliferation and inhibition of apoptosis in hemopoietic progenitor cells [ 7 ]. (hindawi.com)
Karyotype3
Mitosis3
  • As each chromosome contains a single centromere, it remains unclear how acentric fragments derived from shattered chromosomes are inherited between daughter cells during mitosis 6 . (nature.com)
  • Here we tracked micronucleated chromosomes with live-cell imaging and show that acentric fragments cluster in close spatial proximity throughout mitosis for asymmetric inheritance by a single daughter cell. (nature.com)
  • Here we show that pulverized chromosomes from micronuclei spatially cluster throughout mitosis and identify the CIP2A-TOPBP1 complex as an essential regulator of this process. (nature.com)
Abnormalities2
  • Human chromosome abnormalities -- Diagnosis. (edu.au)
  • Resistant MMR-deficient cells most frequently displayed no copy number alterations (16/29 cell pools), whereas all MMR-proficient cells had unique abnormalities involving chromosome 5, including amplicons centered on the target gene, DHFR and/or a neighboring novel locus (7/13 pools). (nyu.edu)
Cancers2
  • The overall pattern of copy number change was strikingly similar between cell lines and primary cancers with a few obvious exceptions such as loss of chromosome 6 and gain of chromosomes 15 and 12p in the former. (ox.ac.uk)
  • For example, loss of chromosome 8p was a common event in CIN+ cell lines and cancers but was often found to be gained in MSI+ cancers. (ox.ac.uk)
Human1
Fragments2
  • The stochastic inheritance of chromosome fragments by both newly formed daughter cells could in part contribute to the alternating DNA copy-number states that are characteristic of chromothripsis 2 . (nature.com)
  • However, most fragments derived from pulverized chromosomes are acentric and cannot directly bind to spindle microtubules 14 . (nature.com)