2024
Implementation of Liquid Biopsy in Non-Small-Cell Lung Cancer: An Ontario Perspective
Breadner D, Hwang D, Husereau D, Cheema P, Doucette S, Ellis P, Kassam S, Leighl N, Maziak D, Selvarajah S, Sheffield B, Juergens R. Implementation of Liquid Biopsy in Non-Small-Cell Lung Cancer: An Ontario Perspective. Current Oncology 2024, 31: 6017-6031. PMID: 39451753, PMCID: PMC11505603, DOI: 10.3390/curroncol31100449.Peer-Reviewed Original ResearchNon-small-cell lung cancerAdvanced non-small-cell lung cancerCirculating tumor DNALung cancerMolecular profilingLiquid biopsyImplementation of liquid biopsiesComprehensive molecular profilingNon-small-cellHigh-risk patientsCancer-related deathsMinimally invasive methodTissue biopsy samplesTumor DNAInsufficient tissueMultidisciplinary working groupTherapy selectionTissue biopsiesBiomarker testingBiopsy samplesBiopsyGold standardInvasive methodEligibility criteriaCancerClinical utility of upfront liquid biopsy in non-small cell lung cancer in the community setting.
Doro L, Ozcan G, Vredenburgh J, Collier E. Clinical utility of upfront liquid biopsy in non-small cell lung cancer in the community setting. Journal Of Clinical Oncology 2024, 20: 316-316. DOI: 10.1200/op.2024.20.10_suppl.316.Peer-Reviewed Original ResearchNon-small cell lung cancerNon-small cell lung cancer patientsCell lung cancerLiquid biopsyAdvanced non-small cell lung cancerLung cancerDiagnosis of advanced non-small cell lung cancerDiagnosed NSCLCNext generation sequencingMolecular profilingClinical utilityLiquid biopsy resultsComprehensive molecular profilingTarget genetic abnormalitiesKRAS G12C mutationProportion of patientsProgression of eGFRPartial responsePlasma genotypingBiopsy resultsBRCA carriersTreatment failureOncoKB databaseSystemic treatmentActionable mutationsTranslation of Epigenetics in Cell-Free DNA Liquid Biopsy Technology and Precision Oncology
Tan W, Nagabhyrava S, Ang-Olson O, Das P, Ladel L, Sailo B, He L, Sharma A, Ahuja N. Translation of Epigenetics in Cell-Free DNA Liquid Biopsy Technology and Precision Oncology. Current Issues In Molecular Biology 2024, 46: 6533-6565. PMID: 39057032, PMCID: PMC11276574, DOI: 10.3390/cimb46070390.Peer-Reviewed Original ResearchCell-free DNA liquid biopsyCell-free DNALiquid biopsy technologiesLiquid biopsyBiopsy technologyEarly cancer detectionClinical applicationCfDNA-based liquid biopsyMonitoring residual diseaseEarly detection testsCancer detectionPotential of epigeneticsPersonalized cancer treatmentImprove cancer outcomesTissue of originFragmentation pattern analysisResidual diseaseDNA methylationMulti-cancer early detection testTreatment responseBiopsyCancer outcomesCancer preventionEpigeneticsPrecision oncologyCirculating Tumor DNA in Genitourinary Cancers: Detection, Prognostics, and Therapeutic Implications
Gerke M, Jansen C, Bilen M. Circulating Tumor DNA in Genitourinary Cancers: Detection, Prognostics, and Therapeutic Implications. Cancers 2024, 16: 2280. PMID: 38927984, PMCID: PMC11201475, DOI: 10.3390/cancers16122280.Peer-Reviewed Original ResearchRenal cell carcinomaGU cancersProstate cancerBladder cancerGenitourinary (GU) cancersUtilization of liquid biopsyCastration-resistant prostate cancerDetect residual diseaseCirculating tumor DNATherapeutic response predictionCtDNA assaysResidual diseaseCtDNA analysisCell carcinomaTumor DNAGenitourinary cancersPrognostic informationClinical detection methodsTreatment responseGenomic alterationsLiquid biopsyClinical trialsTherapeutic implicationsCancerCtDNAEpigenomic signatures of sarcomatoid differentiation to guide the treatment of renal cell carcinoma
El Zarif T, Semaan K, Eid M, Seo J, Garinet S, Davidsohn M, Sahgal P, Fortunato B, Canniff J, Nassar A, Abou Alaiwi S, Bakouny Z, Lakshminarayanan G, Savignano H, Lyons K, Matar S, Ali A, Saad E, Saliby R, Cordeiro P, Zhang Z, El Ahmar N, Laimon Y, Labaki C, Shah V, Freeman D, O'Toole J, Lee G, Hwang J, Pomerantz M, Signoretti S, Van Allen E, Xie W, Berchuck J, Viswanathan S, Braun D, Choueiri T, Freedman M, Baca S. Epigenomic signatures of sarcomatoid differentiation to guide the treatment of renal cell carcinoma. Cell Reports 2024, 43: 114350. PMID: 38870013, PMCID: PMC11929466, DOI: 10.1016/j.celrep.2024.114350.Peer-Reviewed Original ResearchImmune checkpoint inhibitorsRenal cell carcinomaSarcomatoid differentiationCell carcinomaResponse to immune checkpoint inhibitorsGene regulatory programsAssociated with poor survivalTreatment of renal cell carcinomaLow diagnostic yieldRandomized clinical trialsCheckpoint inhibitorsTumor histologyEpigenomic signaturesTranscription factor FOSL1Healthy volunteersPatient plasmaPoor survivalLiquid biopsyFOSL1 expressionClinical trialsProfiling histone modificationsDiagnostic approachImprove outcomesRegulatory programsPlasma samplesLiquid biopsy‐based circulating tumour (ct)DNA analysis of a spectrum of myeloid and lymphoid malignancies yields clinically actionable results
Mata D, Lee J, Shanmugam V, Marcus C, Schrock A, Williams E, Ritterhouse L, Hickman R, Janovitz T, Patel N, Kroger B, Ross J, Mirza K, Oxnard G, Vergilio J, Elvin J, Benhamida J, Decker B, Xu M. Liquid biopsy‐based circulating tumour (ct)DNA analysis of a spectrum of myeloid and lymphoid malignancies yields clinically actionable results. Histopathology 2024, 84: 1224-1237. PMID: 38422618, DOI: 10.1111/his.15168.Peer-Reviewed Original ResearchConceptsNon-Hodgkin's lymphomaPlasma-cell neoplasmsAcute myeloid leukemiaCirculating tumor DNAHodgkin lymphomaMyelodysplastic syndromeHaematopoietic neoplasmsNext-generation sequencingTissue-based NGSMaximum somatic allele frequencyFoundationOne Liquid CDxTherapy-resistant clonesRelevant genomic alterationsPositive percent agreementPotential clinical utilityLymphoid malignanciesTumor DNAMyeloid leukemiaPlasma-cellsTissue biopsiesGenomic alterationsPathogenic alterationsLiquid biopsyMolecular profilingTP53
2023
The Liquid Biopsy Consortium: Challenges and opportunities for early cancer detection and monitoring
Batool S, Yekula A, Khanna P, Hsia T, Gamblin A, Ekanayake E, Escobedo A, You D, Castro C, Im H, Kilic T, Garlin M, Skog J, Dinulescu D, Dudley J, Agrawal N, Cheng J, Abtin F, Aberle D, Chia D, Elashoff D, Grognan T, Krysan K, Oh S, Strom C, Tu M, Wei F, Xian R, Skates S, Zhang D, Trinh T, Watson M, Aft R, Rawal S, Agarwal A, Kesmodel S, Yang C, Shen C, Hochberg F, Wong D, Patel A, Papadopoulos N, Bettegowda C, Cote R, Srivastava S, Lee H, Carter B, Balaj L. The Liquid Biopsy Consortium: Challenges and opportunities for early cancer detection and monitoring. Cell Reports Medicine 2023, 4: 101198. PMID: 37716353, PMCID: PMC10591039, DOI: 10.1016/j.xcrm.2023.101198.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsLiquid biopsyEpigenetic markers and therapeutic targets for metastasis
Kravitz C, Yan Q, Nguyen D. Epigenetic markers and therapeutic targets for metastasis. Cancer And Metastasis Reviews 2023, 42: 427-443. PMID: 37286865, PMCID: PMC10595046, DOI: 10.1007/s10555-023-10109-y.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsEpigenomic alterationsLineage integrityTherapeutic targetEpigenetic markersCancer cellsGenetic aberrationsCurrent knowledgeHuman tumorsMalignant cell cloneTumor progressionDNANumber of discoveriesCell clonesDisseminated diseaseCertain organsPrimary tumorTherapeutic responseMetastatic cancerEpigenomeChromatinHistonesLiquid biopsyAlterationsClonesTarget
2022
Implementation of the Avera/Sema4 oncology and analytics protocol (ASAP).
Williams C, Starks D, Elsey R, Meissner T, Solomon B, Albano M, Hantash F, Schadt E, Rojas-Espaillat L, Lee J, Oh W. Implementation of the Avera/Sema4 oncology and analytics protocol (ASAP). Journal Of Clinical Oncology 2022, 40: tps6605-tps6605. DOI: 10.1200/jco.2022.40.16_suppl.tps6605.Peer-Reviewed Original ResearchCommunity-based health systemElectronic health informationHereditary cancer testingCancer CenterComprehensive molecular profilingElectronic medical recordsRegional cancer centerWhole-exome sequencingHereditary testingImprove patient outcomesAvera HealthASAP studyPopulation healthHealth systemHealth informationCancer testingLiquid biopsyNational guidelinesMolecular profilingOutreach sitesOtolaryngology clinicPatient outcomesDetection of somatic alterationsMedical recordsMedical oncologyLimitations and opportunities of technologies for the analysis of cell-free DNA in cancer diagnostics
Song P, Wu LR, Yan YH, Zhang JX, Chu T, Kwong LN, Patel AA, Zhang DY. Limitations and opportunities of technologies for the analysis of cell-free DNA in cancer diagnostics. Nature Biomedical Engineering 2022, 6: 232-245. PMID: 35102279, PMCID: PMC9336539, DOI: 10.1038/s41551-021-00837-3.Peer-Reviewed Original ResearchChapter 2 Overview of liquid biopsy
Aghamir S, Khatami F, Yarandi V, Rezaeian A, Fiorentino M. Chapter 2 Overview of liquid biopsy. 2022, 5-30. DOI: 10.1016/b978-0-323-99884-0.00004-5.Peer-Reviewed Original ResearchLiquid biopsy analysisTumor-derived cellsLiquid biopsyBiopsy analysisCell-free circulating tumor DNAApplication of liquid biopsyLiquid biopsy componentsCharacterization of CTCsPredictive of responseDetection of mutationsMinimally invasive biomarkersTumor characteristicsLiquid biopsy dataUrogenital cancersTumor DNADroplet digital PCRBiopsy dataTherapeutic decisionsBiopsyNext-generation sequencingTumorInvasive biomarkersMedical strategiesCancerPersonalized medicine
2021
Cancer Epigenetic Biomarkers in Liquid Biopsy for High Incidence Malignancies
Palanca-Ballester C, Rodriguez-Casanova A, Torres S, Calabuig-Fariñas S, Exposito F, Serrano D, Redin E, Valencia K, Jantus-Lewintre E, Diaz-Lagares A, Montuenga L, Sandoval J, Calvo A. Cancer Epigenetic Biomarkers in Liquid Biopsy for High Incidence Malignancies. Cancers 2021, 13: 3016. PMID: 34208598, PMCID: PMC8233712, DOI: 10.3390/cancers13123016.Peer-Reviewed Original ResearchLiquid biopsyEpigenetic biomarkersSpecific epigenetic alterationsDNA methylation changesTumor microenvironmentDNA promoter methylationCommon clinical practiceHigh-incidence malignancyActionable genetic alterationsCancer drug responseSingle geneEpigenetic eventsDNA methylationGene setsMethylation changesTypes of cancerEpigenetic alterationsPrimary tumorClinical trialsClinical valueCerebrospinal fluidHigh incidenceTissue biopsiesClinical practiceEarly alterations
2020
Novel Approaches to Screening for Breast Cancer
Mann R, Hooley R, Barr R, Moy L. Novel Approaches to Screening for Breast Cancer. Radiology 2020, 297: 200172. PMID: 32897163, DOI: 10.1148/radiol.2020200172.Peer-Reviewed Original ResearchConceptsBreast cancer-related mortalityBreast cancer screeningCancer screeningMolecular breast imagingCancer-related mortalityScreening modalitiesBreast imagingDigital breast tomosynthesisAggressive treatmentScreening strategiesFalse-positive rateBreast cancerSpectral mammographyLiquid biopsyBreath testScreening testBreastBreast tomosynthesisScreeningMammographyNovel approachesAbstract A65: Longitudinal detection of TERT-mutant plasma cell-free circulating tumor DNA in newly diagnosed glioblastoma patients
Cordova C, Syeda M, Corless B, Wiggins J, Patel A, Kurz S, Delara M, Sawaged Z, Utate M, Placantonakis D, Golfinos J, Schafrick J, Silverman J, Jain R, Snuderl M, Zagzag D, Karlin-Neumann G, Polsky D, Chi A. Abstract A65: Longitudinal detection of TERT-mutant plasma cell-free circulating tumor DNA in newly diagnosed glioblastoma patients. Clinical Cancer Research 2020, 26: a65-a65. DOI: 10.1158/1557-3265.liqbiop20-a65.Peer-Reviewed Original ResearchCell-free circulating tumor DNAPlasma cell-free circulating tumor DNADroplet digital PCRTumor DNAClinical outcomesDroplet digital PCR assayGBM patientsC228TC250TTERT mutationsIDHwt glioblastomasPlasma samplesLiquid biopsyPost-RT follow-upPromoter mutations C228TTERT promoter hotspot mutationsNewly diagnosed GBM patientsAssociated with clinical outcomesMonitoring of glioblastomaMonths post radiationDiagnosed glioblastoma patientsGross total resectionPromoter hotspot mutationsIDH wild-typeFFPE tumor samplesA multi-gene colorectal cancer liquid biopsy with >90% accuracy in diagnosis and assessment of disease status.
Modlin I, Kidd M, Kitz A, Drozdov I, Malczewska A, Kusnierz K, Aslanian H. A multi-gene colorectal cancer liquid biopsy with >90% accuracy in diagnosis and assessment of disease status. Journal Of Clinical Oncology 2020, 38: e16079-e16079. DOI: 10.1200/jco.2020.38.15_suppl.e16079.Peer-Reviewed Original ResearchStable diseaseColorectal cancerProgressive diseaseCA 19Cancer liquid biopsyLiquid biopsySurgical resection samplesBlood-based biomarkersCell linesResection samplesSurgical cohortSurgical resectionChemotherapy patientsCRC tumorsScore utilityClinical utilityBlood samplesColon cancerAUROC analysisDisease statusTumor tissueDiagnostic accuracyGene expressionCohortFunctional enrichment analysisA 13-gene colorectal cancer liquid biopsy with greater than 90 percent accuracy in diagnosis and assessment of disease status.
Modlin I, Kidd M, Drozdov I, Kitz A, Malczewska A, Kusnierz K, Aslanian H. A 13-gene colorectal cancer liquid biopsy with greater than 90 percent accuracy in diagnosis and assessment of disease status. Journal Of Clinical Oncology 2020, 38: 18-18. DOI: 10.1200/jco.2020.38.4_suppl.18.Peer-Reviewed Original ResearchColorectal cancerStable diseaseProgressive diseaseClinical utilityCA 19CRC tumorsCancer liquid biopsyLiquid biopsyBlood-based biomarkersSurgical resectionChemotherapy patientsDisease burdenScore utilityBlood signatureBlood samplesAUROC analysisDisease statusDiagnostic accuracyGene expressionDiseaseCandidate markersResectionExpression levelsBiopsyCEA
2019
The use of cell free DNA in the diagnosis of HCC
Banini BA, Sanyal AJ. The use of cell free DNA in the diagnosis of HCC. Hepatoma Research 2019, 2019: 34. PMID: 31673629, PMCID: PMC6822275, DOI: 10.20517/2394-5079.2019.30.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsDiagnosis of HCCHepatocellular carcinomaNon-invasive biomarkersCommon malignant tumorPotential clinical utilityCell-free nucleic acidsTypes of cancerCell-free DNALiquid biopsy analysisAnalysis of bloodLiver biopsyPeripheral bloodTumor recurrenceMalignant tumorsProstate cancerEarly diagnosisClinical utilityBiopsy analysisAdvanced stageHigh mortalityTreatment monitoringLiquid biopsyDiagnosisBody fluidsBiopsyNETest Liquid Biopsy Is Diagnostic of Lung Neuroendocrine Tumors and Identifies Progressive Disease
Malczewska A, Oberg K, Bodei L, Aslanian H, Lewczuk A, Filosso PL, Wójcik-Giertuga M, Rydel M, Zielińska-Leś I, Walter A, Suarez A, Kolasińska-Ćwikła A, Roffinella M, Jamidar P, Ziora D, Czyżewski D, Kos-Kudła B, Ćwikła J. NETest Liquid Biopsy Is Diagnostic of Lung Neuroendocrine Tumors and Identifies Progressive Disease. Neuroendocrinology 2019, 108: 219-231. PMID: 30654372, PMCID: PMC7472425, DOI: 10.1159/000497037.Peer-Reviewed Original ResearchConceptsSmall cell lung cancerLarge cell neuroendocrine carcinomaSquamous cell carcinomaIdiopathic pulmonary fibrosisBronchopulmonary carcinoidsNETest levelsLung cancerAtypical carcinoidLiquid biopsyLung neuroendocrine tumorsRECIST 1.1Stable diseaseMetastatic diseaseProgressive diseaseStudy cohortClinical progressionPulmonary fibrosisCell carcinomaNeuroendocrine carcinomaNeuroendocrine tumorsLung neoplasiaHealthy controlsNeuroendocrine neoplasiaBlinded studyBlood samples
2018
Diagnostic value of combined IQGAP3/BMP4 and IQGAP3/FAM107A expression ratios in urinary cell-free DNA for discriminating bladder cancer from hematuria
Xu Y, Kim Y, Jeong P, Piao X, Byun Y, Kang H, Kim W, Lee J, Kim I, Moon S, Choi Y, Yun S, Kim W. Diagnostic value of combined IQGAP3/BMP4 and IQGAP3/FAM107A expression ratios in urinary cell-free DNA for discriminating bladder cancer from hematuria. Urologic Oncology Seminars And Original Investigations 2018, 37: 86-96. PMID: 30446454, DOI: 10.1016/j.urolonc.2018.10.023.Peer-Reviewed Original ResearchConceptsBladder cancerUrinary cell-free DNACell-free DNAScreening groupHematuria patientsValidation cohortPredictive valueUrine-based markersNegative predictive valuePositive predictive valueGood diagnostic performanceStudy cohortBC patientsUrological cancersNoninvasive biomarkersPatientsScore indexDiagnostic valueHematuriaExpression level ratioLiquid biopsyCohortDiagnostic performanceCancerDS-indexLiquid Biopsy for Advanced Non-Small Cell Lung Cancer (NSCLC): A Statement Paper from the IASLC
Rolfo C, Mack PC, Scagliotti GV, Baas P, Barlesi F, Bivona TG, Herbst RS, Mok TS, Peled N, Pirker R, Raez LE, Reck M, Riess JW, Sequist LV, Shepherd FA, Sholl LM, Tan D, Wakelee HA, Wistuba II, Wynes MW, Carbone DP, Hirsch FR, Gandara DR. Liquid Biopsy for Advanced Non-Small Cell Lung Cancer (NSCLC): A Statement Paper from the IASLC. Journal Of Thoracic Oncology 2018, 13: 1248-1268. PMID: 29885479, DOI: 10.1016/j.jtho.2018.05.030.Peer-Reviewed Original ResearchConceptsLiquid biopsyAdvanced non-small cell lungClinical practiceNon-small cell lungResistance mutationsAdvanced NSCLC patientsTumor DNA (ctDNA) assaysCurrent available evidenceCell-free tumor DNALiquid biopsy approachesMultiple cancer typesNSCLC patientsClinical outcomesCell lungLung cancerThoracic oncologyClinical managementMultidisciplinary panelBiopsy approachUnmet needBiopsyPatient careStatement paperTumor DNATumor samples
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