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Loss of HeterozygosityChromosomes, Human, Pair 9HomozygoteSurvival of Motor Neuron 2 ProteinDNA MethylationSurvival of Motor Neuron 1 ProteinSMN Complex ProteinsMuscular Atrophy, SpinalGene DeletionCpG IslandsHeterozygotePromoter Regions, GeneticGene SilencingMicrosatellite RepeatsDNA, NeoplasmAzacitidineGenes, Tumor SuppressorEpigenesis, GeneticDNA Modification MethylasesDeath-Associated Protein KinasesPolymerase Chain ReactionGenes, p16Tumor Suppressor ProteinsGene Expression Regulation, NeoplasticAllelesCyclin-Dependent Kinase Inhibitor p16DNA (Cytosine-5-)-MethyltransferaseSulfitesChromosomes, Human, Pair 3Genetic MarkersMutationChromosomes, Human, Pair 17Cell Line, TumorGlutathione S-Transferase piChromosome DeletionNeoplasm ProteinsBase SequenceCyclin-Dependent Kinase Inhibitor p15Chromosome MappingGenes, DCCMethylationChromosomes, Human, Pair 11O(6)-Methylguanine-DNA MethyltransferasePolymorphism, Single-Stranded ConformationalReverse Transcriptase Polymerase Chain ReactionAdenocarcinomaCarcinoma, Squamous CellDNA Mutational AnalysisPolymorphism, GeneticChromosomes, Human, Pair 1Colorectal NeoplasmsGenes, APCMolecular Sequence DataTumor Markers, BiologicalNuclear ProteinsGenetic VariationGenes, p53Microsatellite InstabilityStomach NeoplasmsBreast NeoplasmsAdaptor Proteins, Signal TransducingAcid Anhydride HydrolasesTumor Suppressor Protein p14ARFCadherinsTumor Cells, CulturedDNA PrimersCyclin A1Heterozygote DetectionRNA, MessengerLung NeoplasmsCore Binding Factor Alpha 3 SubunitDNA, SatelliteDown-RegulationGenotypeSequence Analysis, DNAInbreedingChromosomes, Human, Pair 10Esophageal NeoplasmsImmunohistochemistryPrognosisCarcinomaPhenotypeGerm-Line MutationCell Transformation, NeoplasticPolymorphism, Restriction Fragment LengthGenes, NeoplasmGenetics, PopulationLong Interspersed Nucleotide ElementsDNA Repair EnzymesCarrier ProteinsPedigreeExonsPrecancerous ConditionsGenomic ImprintingGenetic LociChromosomes, Human, Pair 13Chromosomes, Human, Pair 16DNAGene FrequencyEpigenomics
Promoter hypermethylationDeletionsAberrantLungGenePatientsEarlyFHITInactivationTumorMutationPromoter regionMutantsChromosomeBreast cancerGenetic
Promoter hypermethylation2
  • Low protein expression of Ku80 was significantly associated with low mRNA expression and with XRCC5 promoter hypermethylation but not with LOH of the gene. (wikipedia.org)
  • Furthermore, some genes (RASSF1A and BLU/ZMYND10) are very frequently inactivated by non-classical mechanisms such as promoter hypermethylation resulting in loss of expression. (birmingham.ac.uk)
Deletions1
  • Intense investigation of allelic losses and the discovery of overlapping homozygous deletions in lung and breast tumour-cell lines have defined a minimal critical 120 kb deletion region containing eight genes and likely to harbor one or more tumour-suppressor genes (TSGs). (birmingham.ac.uk)
Aberrant1
Lung2
  • In a study of 87 matched pairs of primary tumors of non-small-cell lung carcinoma and nearby normal lung tissue, 25% of the tumors had loss of heterozygosity at the XRCC5 locus and a similar percentage of tumors had hypermethylation of the promoter region of XRCC5. (wikipedia.org)
  • In addition, low expression of Ku80 was found in 15% of adenocarcinoma type and 32% of squamous cell type non-small cell lung cancers, and this was correlated with hypermethylation of the XRCC5 promoter. (wikipedia.org)
Gene2
  • Ku80 has been referred to by several names including: Lupus Ku autoantigen protein p80 ATP-dependent DNA helicase 2 subunit 2 X-ray repair complementing defective repair in Chinese hamster cells 5 X-ray repair cross-complementing 5 (XRCC5) The protein expression level of Ku80 can be repressed by epigenetic hypermethylation of the promoter region of gene XRCC5 which encodes Ku80. (wikipedia.org)
  • In five cases with p16 gene deletion, homozygous deletion was detected. (iiarjournals.org)
Patients1
  • Loss of p16 due to hypermethylation of the promoter region, homozygous deletion, or loss of heterozygosity is commonly found in OSCC patients with conventional risk factors. (rmmj.org.il)
Early2
  • Mouse mutants with homozygous defects in Ku80 experience an early onset of senescence. (wikipedia.org)
  • Early clonal genetic events in benign hyperplastic lesions show losses at chromosomes 9p21 and 3p. (medscape.com)
FHIT12
  • Previous studies have shown that loss of heterozygosity, homozygous deletions, and abnormal expression of the FHIT gene are involved in several types of human malignancies. (nih.gov)
  • A CpG island is present in the 5' promoter region of the FHIT gene, and methylation in this region correlates with loss of FHIT expression. (nih.gov)
  • Four of 10 leukemia cell lines (40%) and 52 of 190 (27.4%) bone marrows from childhood leukemia patients demonstrated hypermethylation of the promoter region of FHIT. (nih.gov)
  • deoxycytidine treatment showed that promoter hypermethylation correlated with FHIT inactivation. (nih.gov)
  • 1. Loss of FHIT protein expression is a marker of adverse evolution in good prognosis localized breast cancer. (nih.gov)
  • 5. Loss of FHIT expression in breast cancer is correlated with poor prognostic markers. (nih.gov)
  • 8. FHIT loss of function in human primary breast cancer correlates with advanced stage of the disease. (nih.gov)
  • 16. Homozygous deletion but not mutation of exons 5 and 8 of the fragile histidine triad (FHIT) gene is associated with features of differentiated thyroid carcinoma. (nih.gov)
  • 19. Two-hit inactivation of FHIT by loss of heterozygosity and hypermethylation in breast cancer. (nih.gov)
  • 20. Loss of FHIT function in lung cancer and preinvasive bronchial lesions. (nih.gov)
  • Reduced Fhit protein expression and loss of heterozygosity at FHIT gene in tumours from smoking and asbestos-exposed lung cancer patients. (cdc.gov)
  • Mutational and promoter hypermethylation status of FHIT gene in breast cancer patients of Kashmir. (cdc.gov)
Inactivation1
  • Cytogenetic and molecular genetic studies have disclosed multiple genetic alterations associated with UC, including loss of heterozygosity in several chromosomal arms, mutation inactivation and homozygous deletion of several tumor suppressor genes, and amplification of some oncogenes. (medscape.com)
Tumor3
  • Loss of heterozygosity of tumor suppressor genes at chromosome 3p in transitional cell carcinoma of urinary bladder]. (cdc.gov)
  • Loss of heterozygosity at loci of candidate tumor suppressor genes in microdissected primary non-small cell lung cancer. (cdc.gov)
  • Loss of expression or activity of the tumor suppressor PTEN acts similarly to an activating mutation in the oncogene PIK3CA in elevating intracellular levels of phosphatidylinositol (3,4,5)-trisphosphate (PIP3), inducing signaling by AKT and other pro-tumorigenic signaling proteins. (nature.com)
Mutation2
  • Combined TP53 mutation/3p loss correlates with decreased radiosensitivity and increased matrix-metalloproteinase activity in head and neck carcinoma. (cdc.gov)
  • We next assessed the prognostic significance of CDKN2A, RB1 or TP53 mutation/copy loss in an independent cohort of 71 patients with primary GIST. (biomedcentral.com)
Promoter region3
  • Ku80 has been referred to by several names including: Lupus Ku autoantigen protein p80 ATP-dependent DNA helicase 2 subunit 2 X-ray repair complementing defective repair in Chinese hamster cells 5 X-ray repair cross-complementing 5 (XRCC5) The protein expression level of Ku80 can be repressed by epigenetic hypermethylation of the promoter region of gene XRCC5 which encodes Ku80. (wikipedia.org)
  • In a study of 87 matched pairs of primary tumors of non-small-cell lung carcinoma and nearby normal lung tissue, 25% of the tumors had loss of heterozygosity at the XRCC5 locus and a similar percentage of tumors had hypermethylation of the promoter region of XRCC5. (wikipedia.org)
  • Reduced expression of Cav-1 has been shown to be associated with ovarian carcinoma [ 20 ] and many sarcomas, [ 21 ] while hypermethylation of its promoter region has been detected in prostate carcinoma. (medscape.com)
Mutants1
  • Mouse mutants with homozygous defects in Ku80 experience an early onset of senescence. (wikipedia.org)
Chromosome1
  • all 11 showed significant loss of chromosome 9q, and seven showed significant gain of chromosome 4q. (nih.gov)
Breast cancer1
  • 7. [Loss of fragile histidine triad expression and metastasis in breast cancer]. (nih.gov)
Genetic1
  • Early clonal genetic events in benign hyperplastic lesions show losses at chromosomes 9p21 and 3p. (medscape.com)