2021
Topographic correlates of driver mutations and endogenous gene expression in pediatric diffuse midline gliomas and hemispheric high-grade gliomas
Kazarian E, Marks A, Cui J, Darbinyan A, Tong E, Mueller S, Cha S, Aboian MS. Topographic correlates of driver mutations and endogenous gene expression in pediatric diffuse midline gliomas and hemispheric high-grade gliomas. Scientific Reports 2021, 11: 14377. PMID: 34257334, PMCID: PMC8277861, DOI: 10.1038/s41598-021-92943-0.Peer-Reviewed Original ResearchConceptsHigh-grade gliomasDiffuse midline gliomaPediatric diffuse midline gliomasMidline gliomaGene panel testingDriver mutationsPanel testingTumor board reviewK27M mutationPediatric patientsNormal gene expression patternsH3 K27M-mutationImaging featuresPreoperative MRIEndogenous gene expressionCerebral hemispheresGliomas correlatesNormal brainGene expression patternsMutation testingPatientsTopographic distributionGliomasM mutationIDH1 mutation
2018
Evaluation of a Streamlined Oncologist-Led BRCA Mutation Testing and Counseling Model for Patients With Ovarian Cancer.
Colombo N, Huang G, Scambia G, Chalas E, Pignata S, Fiorica J, Van Le L, Ghamande S, González-Santiago S, Bover I, Graña Suárez B, Green A, Huot-Marchand P, Bourhis Y, Karve S, Blakeley C. Evaluation of a Streamlined Oncologist-Led BRCA Mutation Testing and Counseling Model for Patients With Ovarian Cancer. Journal Of Clinical Oncology 2018, 36: 1300-1307. PMID: 29558274, PMCID: PMC6804908, DOI: 10.1200/jco.2017.76.2781.Peer-Reviewed Original ResearchConceptsOvarian cancerTesting pathwayFaster treatment decisionsManagement of patientsGenetic counselorsBRCA mutation testingMedian turnaround timeOvarian Cancer StudyOncologist satisfactionOncology teamAnalysis populationPatient satisfactionTest counselingPretest counselingTreatment decisionsBRCA testingTurnaround timePatientsMutation testingBRCAmCancerENGAGE studyTesting guidelinesWeeksCancer studies
2014
KRAS mutation testing in clinical practice
Perincheri S, Hui P. KRAS mutation testing in clinical practice. Expert Review Of Molecular Diagnostics 2014, 15: 375-384. PMID: 25487540, DOI: 10.1586/14737159.2015.986102.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsKRAS mutation testingKRAS mutationsMetastatic colorectal carcinomaLung cancer patientsMutations of KRASCommon human malignanciesMutation testingCombinatorial therapeutic strategiesCancer patientsColorectal carcinomaThyroid cancerClinical aggressivenessClinical OncologyTherapeutic strategiesClinical practiceMolecular testingCytological specimensHuman malignanciesPrecision medicinePatientsCancerEssential biomarkersDownstream effectorsCurrent practiceMutationsBest practice of BRAF V600E mutation testing for the diagnosis and management of thyroid cancers
Adeniran AJ, Hui P. Best practice of BRAF V600E mutation testing for the diagnosis and management of thyroid cancers. Expert Review Of Endocrinology & Metabolism 2014, 9: 571-577. PMID: 30736195, DOI: 10.1586/17446651.2014.951635.Peer-Reviewed Original ResearchBRAF V600E mutationPapillary thyroid carcinomaThyroid carcinomaV600E mutationPAX8/PPARγ rearrangementsSubsequent core needle biopsyUndetermined significance/atypiaFine needle aspiration cytologyBRAF V600E mutation testingLow-stage diseaseCore needle biopsyRoutine clinical practiceAggressive tumor behaviorNeedle aspiration cytologyBRAF mutation testingFine-needle aspiration specimensUndetermined significance categoryIndeterminate fine-needle aspiration cytologyNeedle aspiration specimensPredictability of malignancyCommon genetic alterationsMutation testingRET/papillary thyroid carcinomaThyroid fine-needle aspiration specimensIndependent predictorsAutomated Objective Determination of Percentage of Malignant Nuclei for Mutation Testing
Viray H, Coulter M, Li K, Lane K, Madan A, Mitchell K, Schalper K, Hoyt C, Rimm DL. Automated Objective Determination of Percentage of Malignant Nuclei for Mutation Testing. Applied Immunohistochemistry & Molecular Morphology 2014, 22: 363-371. PMID: 24162261, PMCID: PMC3999345, DOI: 10.1097/pai.0b013e318299a1f6.Peer-Reviewed Original ResearchConceptsCriterion standardMalignant cellsMalignant nucleiCompanion diagnostic testsTumor cell percentageMutation testingEosin-stained tissuesCell percentageInForm softwareHistologic specimensTumor tissueColon adenocarcinomaTumor cellsDiagnostic testsPotential future toolDNA mutation testingTissue sectionsContinuous variablesFurther validationPathologist estimationAnalytic sensitivityVariant resultsDNA mutationsBenign nucleiTissue
2012
BRAF mutation testing in clinical practice
Ziai J, Hui P. BRAF mutation testing in clinical practice. Expert Review Of Molecular Diagnostics 2012, 12: 127-138. PMID: 22369373, DOI: 10.1586/erm.12.1.Peer-Reviewed Original ResearchConceptsHairy cell leukemiaBRAF mutation testingPapillary thyroid carcinomaMalignant melanomaThyroid carcinomaCell leukemiaClinical practiceCutaneous malignant melanomaSerine/threonine-protein kinase BRAFCurrent clinical practiceImportant biological markerMEK/ERKTreatment paradigmClinical trialsHigh prevalenceBRAF inhibitorsBRAF mutationsMutation testingPrecision cancer therapyTherapeutic guidanceMutant BRAFLethal diseaseBiological markersCancerHuman cancers
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