2024
Bioinformatics advances in eccDNA identification and analysis
Li F, Ming W, Lu W, Wang Y, Dong X, Bai Y. Bioinformatics advances in eccDNA identification and analysis. Oncogene 2024, 43: 3021-3036. PMID: 39209966, DOI: 10.1038/s41388-024-03138-6.Peer-Reviewed Original ResearchConceptsEccDNA identificationHigh-throughput sequencing technologyExtrachromosomal circular DNACircular DNA moleculesFunctional annotationSequence dataSequencing technologiesBioinformatics AdvancesBioinformatics methodologiesBioinformatics toolsEccDNABioinformatics methodsAnnotation databasesCircular DNABioinformaticsDNA moleculesFunctional analysisOncogene amplificationIdentification toolAnnotationUnique classDNAIdentificationSequenceOncogene13. AmpliconSuite: Analyzing focal amplifications in cancer genomes
Luebeck J, Huang E, Dameracharla B, Kim F, Liefeld T, Ahuja R, Prasad D, Prasad G, Kim S, Kim H, Bailey P, Verhaak R, Deshpande V, Reich M, Mischel P, Mesirov J, Bafna V. 13. AmpliconSuite: Analyzing focal amplifications in cancer genomes. Cancer Genetics 2024, 286: s5. DOI: 10.1016/j.cancergen.2024.08.015.Peer-Reviewed Original ResearchWhole-genome sequencingWhole-genome sequencing dataFocal amplificationCancer genomesStructural variationsAmplification of oncogenesExtrachromosomal DNACopy numberEcDNAGenomeOncogene amplificationAmpliconArchitectCancer progressionAmplificationAmplification typeTumor samplesBiocondaNextflowPCAWGGenePatternRobust identificationDNACCLESequenceOncogeneDefining the Role of Extrachromosomal DNA Amplifications in Medulloblastoma.
Zhao D, Verhaak R. Defining the Role of Extrachromosomal DNA Amplifications in Medulloblastoma. Cancer Research 2024, 84: 515-516. PMID: 38175761, DOI: 10.1158/0008-5472.can-23-4025.Peer-Reviewed Original ResearchConceptsCell-to-cell variabilityWhole-genome sequencingCircular extrachromosomal DNACRISPRi experimentsRewiring eventsExtrachromosomal DNAMultiomics sequencingExtrachromosomal DNA amplificationsCopy numberEcDNADNA amplificationAssociated with worse survivalOncogene amplificationSequenceAmplificationWorse survivalPatient cohortTumor heterogeneityIntratumoral heterogeneityCRISPRiMedulloblastomaPatient outcomesDNA
2020
Extrachromosomal DNA is associated with oncogene amplification and poor outcome across multiple cancers
Kim H, Nguyen N, Turner K, Wu S, Gujar A, Luebeck J, Liu J, Deshpande V, Rajkumar U, Namburi S, Amin S, Yi E, Menghi F, Schulte J, Henssen A, Chang H, Beck C, Mischel P, Bafna V, Verhaak R. Extrachromosomal DNA is associated with oncogene amplification and poor outcome across multiple cancers. Nature Genetics 2020, 52: 891-897. PMID: 32807987, PMCID: PMC7484012, DOI: 10.1038/s41588-020-0678-2.Peer-Reviewed Original ResearchConceptsOncogene amplificationPoor outcomeCancer typesEcDNA amplificationShorter survivalCancer patientsMost cancer typesExtrachromosomal DNA amplificationsClinical impactMultiple cancersPatientsNormal tissuesCancerTranscript fusionsEnhanced chromatin accessibilityIntratumoral genetic heterogeneityOncogene transcriptionChromosomal amplificationOutcomesGenetic heterogeneityHigh levelsDNA amplificationTissue typesBlood
2019
Extrachromosomal oncogene amplification in tumour pathogenesis and evolution
Verhaak R, Bafna V, Mischel P. Extrachromosomal oncogene amplification in tumour pathogenesis and evolution. Nature Reviews Cancer 2019, 19: 283-288. PMID: 30872802, PMCID: PMC7168519, DOI: 10.1038/s41568-019-0128-6.Peer-Reviewed Original Research
2018
Discordant inheritance of chromosomal and extrachromosomal DNA elements contributes to dynamic disease evolution in glioblastoma
deCarvalho A, Kim H, Poisson L, Winn M, Mueller C, Cherba D, Koeman J, Seth S, Protopopov A, Felicella M, Zheng S, Multani A, Jiang Y, Zhang J, Nam D, Petricoin E, Chin L, Mikkelsen T, Verhaak R. Discordant inheritance of chromosomal and extrachromosomal DNA elements contributes to dynamic disease evolution in glioblastoma. Nature Genetics 2018, 50: 708-717. PMID: 29686388, PMCID: PMC5934307, DOI: 10.1038/s41588-018-0105-0.Peer-Reviewed Original ResearchConceptsExtrachromosomal DNA elementsDNA elementsChromosomal DNA alterationsDNA alterationsSomatic driver alterationsGenomic heterogeneitySingle nucleotide variantsOffspring cellsDiscordant inheritanceExtrachromosomal elementsEcDNAsGBM evolutionOncogenic potentialGBM samplesInheritance patternChromosomal alterationsSelection dynamicsModel systemCell culturesOrthotopic xenograft modelDriver alterationsXenograft modelOncogene amplificationCellsGlioblastoma
1987
myc family oncogene amplification in tumor cell lines established from small cell lung cancer patients and its relationship to clinical status and course.
Johnson B, Ihde D, Makuch R, Gazdar A, Carney D, Oie H, Russell E, Nau M, Minna J. myc family oncogene amplification in tumor cell lines established from small cell lung cancer patients and its relationship to clinical status and course. Journal Of Clinical Investigation 1987, 79: 1629-1634. PMID: 3034978, PMCID: PMC424486, DOI: 10.1172/jci112999.Peer-Reviewed Original ResearchConceptsMyc family DNA amplificationPatient tumorsTumor cell linesC-myc amplificationCell linesSmall cell lung cancer patientsCell lung cancer patientsSmall cell lung cancer cell linesCell lung cancer cell linesExtensive-stage patientsLung cancer patientsLung cancer cell linesCancer cell linesRelapsed patientsStage patientsClinical statusCancer patientsChemotherapy treatmentPatientsTumorsDNA amplificationOncogene amplification
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