2024
An elevated rate of whole-genome duplications in cancers from Black patients
Brown L, Hagenson R, Koklič T, Urbančič I, Qiao L, Strancar J, Sheltzer J. An elevated rate of whole-genome duplications in cancers from Black patients. Nature Communications 2024, 15: 8218. PMID: 39300140, PMCID: PMC11413164, DOI: 10.1038/s41467-024-52554-5.Peer-Reviewed Original ResearchMeSH KeywordsBlack or African AmericanDNA Copy Number VariationsFemaleGenome, HumanHumansMaleMiddle AgedMutationNeoplasmsUnited StatesWhite PeopleConceptsWhole-genome duplicationRate of whole-genome duplicationsBlack patientsSelf-reported Black patientsChromosomal copy number changesRates of cancer mortalityCopy number changesInfluence racial disparitiesAssociated with environmental exposuresCancer mortalityGenomic eventsAssociated with shorter patient survivalCancer outcomesRacial disparitiesGenomic alterationsShorter patient survivalBlack individualsWhite patientsEnvironmental exposuresRacial groupsCell culturesAggressive diseasePatient survivalLung cancerEnhanced metastasisEvolving copy number gains promote tumor expansion and bolster mutational diversification
Wang Z, Xia Y, Mills L, Nikolakopoulos A, Maeser N, Dehm S, Sheltzer J, Sun R. Evolving copy number gains promote tumor expansion and bolster mutational diversification. Nature Communications 2024, 15: 2025. PMID: 38448455, PMCID: PMC10918155, DOI: 10.1038/s41467-024-46414-5.Peer-Reviewed Original ResearchConceptsSomatic copy number alterationsMutational diversificationCopy numberGenome sequenced samplesCopy number alterationsCopy number gainGenome segmentsPromote tumor expansionGenome doublingPopulation expansionSequenced samplesFitness effectsTumor typesCancer evolutionTumor expansionClonal expansionGenomeDiversification
2018
Systematic identification of mutations and copy number alterations associated with cancer patient prognosis
Smith J, Sheltzer J. Systematic identification of mutations and copy number alterations associated with cancer patient prognosis. ELife 2018, 7: e39217. PMID: 30526857, PMCID: PMC6289580, DOI: 10.7554/elife.39217.Peer-Reviewed Original ResearchConceptsPatient prognosisSuccessful treatment decisionsDriver genesIndependent patient cohortsRobust prognostic biomarkerCancer patient prognosisSignificant prognostic powerSpecific therapeutic vulnerabilitiesSpecific cancer typesPatient cohortWorse outcomesDeadly malignancyPatient riskClinical riskPrognostic biomarkerTreatment decisionsPrognostic powerMolecular alterationsTherapeutic vulnerabilitiesCopy number alterationsCancer typesFocal CNAsTotal aneuploidyGenomic profilesPrognosis