Featured Publications
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
2024
13. 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 identificationDNACCLESequenceOncogene
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