2018
Evaluating Mismatch Repair Deficiency in Pancreatic Adenocarcinoma: Challenges and Recommendations
Hu Z, Shia J, Stadler Z, Varghese A, Capanu M, Salo-Mullen E, Lowery M, Diaz L, Mandelker D, Yu K, Zervoudakis A, Kelsen D, Iacobuzio-Donahue C, Klimstra D, Saltz L, Sahin I, O'Reilly E. Evaluating Mismatch Repair Deficiency in Pancreatic Adenocarcinoma: Challenges and Recommendations. Clinical Cancer Research 2018, 24: 1326-1336. PMID: 29367431, PMCID: PMC5856632, DOI: 10.1158/1078-0432.ccr-17-3099.Peer-Reviewed Original ResearchConceptsPancreatic ductal adenocarcinomaPancreatic ductal adenocarcinoma patientsNext-generation sequencingMMR-DMicrosatellite instability statusPatients treated with immune checkpoint blockadeGermline testingMicrosatellite instabilityAdvanced pancreatic ductal adenocarcinomaAnalysis of tumor tissueImmune checkpoint blockadeImmune checkpoint inhibitionNext-generation sequencing assayPancreatic ductal adenocarcinoma casesInitiation of therapyTargeted deep sequencingTherapeutic decision-makingMatched normal DNACancer-associated genesCheckpoint blockadeCheckpoint inhibitionMismatch repair deficiencyPancreatic adenocarcinomaSolid tumorsPatient selection
2017
Real-Time Genomic Profiling of Pancreatic Ductal Adenocarcinoma: Potential Actionability and Correlation with Clinical Phenotype
Lowery M, Jordan E, Basturk O, Ptashkin R, Zehir A, Berger M, Leach T, Herbst B, Askan G, Maynard H, Glassman D, Covington C, Schultz N, Abou-Alfa G, Harding J, Klimstra D, Hechtman J, Hyman D, Allen P, Jarnagin W, Balachandran V, Varghese A, Schattner M, Yu K, Saltz L, Solit D, Iacobuzio-Donahue C, Leach S, O'Reilly E. Real-Time Genomic Profiling of Pancreatic Ductal Adenocarcinoma: Potential Actionability and Correlation with Clinical Phenotype. Clinical Cancer Research 2017, 23: 6094-6100. PMID: 28754816, DOI: 10.1158/1078-0432.ccr-17-0899.Peer-Reviewed Original ResearchConceptsPancreatic adenocarcinomaMedian timeComprehensive genetic analysis of patientsDrug responseTargeting DNA damage repairPredictive biomarkers of drug responseMolecular profilingBiomarkers of drug responseEnrollment to clinical trialsGenetic analysis of patientsNext-generation sequencing assayGermline genetic analysisAnalysis of patientsTargeted deep sequencingTherapeutic decision-makingIndividual patient treatmentMatched normal DNACancer-associated genesClinically relevant timeframeComprehensive genetic analysisPredictive biomarkersMatched therapyClinical benefitPrognostic informationPancreatic cancerGenomic predictors of neoadjuvant chemotherapy (NACT) response in breast cancer (BC).
Wong A, Tan K, Sundar R, Ow S, Pang A, Yap H, Chan C, Hartman M, Iau P, Buhari S, Mogro M, Tan I, Wang L, Yang H, Goh B, Lee S. Genomic predictors of neoadjuvant chemotherapy (NACT) response in breast cancer (BC). Journal Of Clinical Oncology 2017, 35: e12122-e12122. DOI: 10.1200/jco.2017.35.15_suppl.e12122.Peer-Reviewed Original ResearchVariant allele frequencyNeoadjuvant chemotherapyPost-NACTPoor outcomeBC patientsBreast cancerPredictors of neoadjuvant chemotherapyEffect of neoadjuvant chemotherapyEmergent mutationsMean tumor sizePost-NACT tumorsSomatic single nucleotide variantsDiagnosed BC patientsSingle nucleotide variantsWhole-exome sequencingMatched normal DNABC relapseNOTCH2 mutationsTumor sizeClinical outcomesNucleotide variantsLesion reductionExome sequencingPatientsMutational landscape
2016
Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA
Schrader K, Cheng D, Joseph V, Prasad M, Walsh M, Zehir A, Ni A, Thomas T, Benayed R, Ashraf A, Lincoln A, Arcila M, Stadler Z, Solit D, Hyman D, Zhang L, Klimstra D, Ladanyi M, Offit K, Berger M, Robson M. Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. JAMA Oncology 2016, 2: 1-8. PMID: 26556299, PMCID: PMC5477989, DOI: 10.1001/jamaoncol.2015.5208.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBiomarkers, TumorDNA Mutational AnalysisFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGerm-Line MutationHumansMaleMiddle AgedModels, GeneticNeoplasmsNew York CityPhenotypePrecision MedicinePredictive Value of TestsPrognosisRisk AssessmentRisk FactorsConceptsTumor-normal sequencingPathogenic germline variantsGermline variantsAdvanced cancer diagnosisClinical tumor sequencingCancer susceptibility genesTumor sequencingMemorial Sloan Kettering Cancer CenterStudies of targeted agentsIndividual cancer typesTumor genetic sequencingGermline findingsProportion of individualsTumor-specific variantsMendelian disease genesTargetable genetic alterationsCancer susceptibilityMatched normal DNACancer diagnosisTargeted tumor sequencingSingle-gene disordersCancer CenterMSK-IMPACTTumor profilingSomatic alterations
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