2018
Comparison of Laboratory-Developed Tests and FDA-Approved Assays for BRAF, EGFR, and KRAS Testing
Kim AS, Bartley AN, Bridge JA, Kamel-Reid S, Lazar AJ, Lindeman NI, Long TA, Merker JD, Rai AJ, Rimm DL, Rothberg PG, Vasalos P, Moncur JT. Comparison of Laboratory-Developed Tests and FDA-Approved Assays for BRAF, EGFR, and KRAS Testing. JAMA Oncology 2018, 4: 838-841. PMID: 29242895, PMCID: PMC6145687, DOI: 10.1001/jamaoncol.2017.4021.Peer-Reviewed Original ResearchConceptsLaboratory-developed testsPT responseCompanion diagnosticsClinical laboratory testingKRAS testingOncology CommitteeMAIN OUTCOMEUS FoodDrug AdministrationPractice characteristicsDiagnostic testingTumor contentProficiency testingVariant-specific differencesEGFRBRAFClinical diagnostic testingMajority of laboratoriesKRASAssaysLaboratory testingPerformance of laboratoriesKit manufacturersResponseParticipants
2017
Pathway level alterations rather than mutations in single genes predict response to HER2-targeted therapies in the neo-ALTTO trial
Shi W, Jiang T, Nuciforo P, Hatzis C, Holmes E, Harbeck N, Sotiriou C, Peña L, Loi S, Rosa DD, Chia S, Wardley A, Ueno T, Rossari J, Eidtmann H, Armour A, Piccart-Gebhart M, Rimm DL, Baselga J, Pusztai L. Pathway level alterations rather than mutations in single genes predict response to HER2-targeted therapies in the neo-ALTTO trial. Annals Of Oncology 2017, 28: 128-135. PMID: 28177460, PMCID: PMC5834036, DOI: 10.1093/annonc/mdw434.Peer-Reviewed Original ResearchMeSH KeywordsAntineoplastic Combined Chemotherapy ProtocolsBiopsy, Fine-NeedleBreast NeoplasmsClass I Phosphatidylinositol 3-KinasesDNA, NeoplasmExome SequencingFemaleHumansLapatinibMolecular Targeted TherapyMutationProportional Hazards ModelsProtein Kinase InhibitorsQuinazolinesReceptor, ErbB-2RhoA GTP-Binding ProteinTrastuzumabConceptsPathologic complete response
2009
DNA Hypermethylation of ESR1 and PGR in Breast Cancer: Pathologic and Epidemiologic Associations
Gaudet MM, Campan M, Figueroa JD, Yang XR, Lissowska J, Peplonska B, Brinton LA, Rimm DL, Laird PW, Garcia-Closas M, Sherman ME. DNA Hypermethylation of ESR1 and PGR in Breast Cancer: Pathologic and Epidemiologic Associations. Cancer Epidemiology Biomarkers & Prevention 2009, 18: 3036-3043. PMID: 19861523, PMCID: PMC2783691, DOI: 10.1158/1055-9965.epi-09-0678.Peer-Reviewed Original ResearchConceptsBreast cancerPopulation-based case-control studyBreast cancer risk factorsPromoter CLevels of ERalphaPR-negative tumorsInvasive breast cancerCancer risk factorsCase-control studyPercentage of tumorsNegative breast cancerTumor tissue coresImproved risk predictionLower ERalphaTumor characteristicsPR expressionProgesterone receptorEpidemiologic associationRisk factorsInverse associationDNA hypermethylationPR levelsMost tumorsReceptor silencingTumors
2005
Hypercalcemia of Malignancy due to Ectopic Transactivation of the Parathyroid Hormone Gene
VanHouten JN, Yu N, Rimm D, Dotto J, Arnold A, Wysolmerski JJ, Udelsman R. Hypercalcemia of Malignancy due to Ectopic Transactivation of the Parathyroid Hormone Gene. The Journal Of Clinical Endocrinology & Metabolism 2005, 91: 580-583. PMID: 16263810, DOI: 10.1210/jc.2005-2095.Peer-Reviewed Original ResearchMeSH KeywordsAgedDNA MethylationDNA, NeoplasmFatal OutcomeFemaleGene ExpressionHumansHypercalcemiaHyperparathyroidismNeuroendocrine TumorsPancreatic NeoplasmsParathyroid GlandsParathyroid Hormone-Related ProteinPromoter Regions, GeneticReverse Transcriptase Polymerase Chain ReactionTranscriptional Activation"Lineage Addiction" in Human Cancer: Lessons from Integrated Genomics
GARRAWAY L, WEIR B, ZHAO X, WIDLUND H, BEROUKHIM R, BERGER A, RIMM D, RUBIN M, FISHER D, MEYERSON M, SELLERS W. "Lineage Addiction" in Human Cancer: Lessons from Integrated Genomics. Cold Spring Harbor Symposia On Quantitative Biology 2005, 70: 25-34. PMID: 16869735, DOI: 10.1101/sqb.2005.70.016.Peer-Reviewed Original ResearchMeSH KeywordsChromosomes, Human, Pair 3Cluster AnalysisDNA, NeoplasmGene AmplificationGene DosageGene Expression ProfilingGenomicsHumansIn Situ Hybridization, FluorescenceMelanomaMicrophthalmia-Associated Transcription FactorNeoplasmsOligonucleotide Array Sequence AnalysisOncogenesPolymorphism, Single NucleotideConceptsLineage addictionGenome-scale data setsHigh-density single nucleotide polymorphism arraysNovel cancer genesSingle nucleotide polymorphism arrayDNA microarray platformCell line collectionCell linesAdditional functional studiesTumor survival mechanismsSNP array dataDetailed genomic characterizationGene expression dataDistinct tissue typesIntegrated GenomicCopy number alterationsTissue of originGenome characterizationSurvival mechanismCancer genesGenomic characterizationMelanoma cell linesSurvival pathwaysExpression dataProgression of tumors
2002
p53 Mutations as Tumor Markers in Fine Needle Aspirates of Palpable Breast Masses
Dillon DA, Hipolito E, Zheng K, Rimm DL, Costa JC. p53 Mutations as Tumor Markers in Fine Needle Aspirates of Palpable Breast Masses. Acta Cytologica 2002, 46: 841-847. PMID: 12365217, DOI: 10.1159/000327057.Peer-Reviewed Original ResearchMeSH KeywordsAbscessAdenocarcinomaAdultAgedAged, 80 and overAmino Acid SubstitutionBiomarkers, TumorBiopsy, NeedleBreast NeoplasmsCarcinoma, Ductal, BreastCodon, TerminatorCystsDNA Mutational AnalysisDNA, NeoplasmExonsFemaleFrameshift MutationGenes, p53GenotypeHumansMiddle AgedMutationPolymorphism, Single-Stranded ConformationalRetrospective StudiesConceptsFine needle aspiratesP53 exons 5Breast massesPolymerase chain reactionNeedle aspiratesP53 mutationsSingle-strand conformational polymorphism analysisSubsequent excisional biopsyPalpable breast massesPotential diagnostic utilityDefinitive cytologic diagnosisTumor cell markersExon 5Molecular diagnostic markersExcisional biopsyBenign cytologyBreast carcinomaSuspicious cytologyRetrospective analysisCytologic diagnosisTumor markersDiagnostic criteriaBiopsy tissueMorphologic diagnosisDiagnostic utility
1999
Frequent Nuclear/Cytoplasmic Localization of β-Catenin without Exon 3 Mutations in Malignant Melanoma
Rimm D, Caca K, Hu G, Harrison F, Fearon E. Frequent Nuclear/Cytoplasmic Localization of β-Catenin without Exon 3 Mutations in Malignant Melanoma. American Journal Of Pathology 1999, 154: 325-329. PMID: 10027390, PMCID: PMC1850000, DOI: 10.1016/s0002-9440(10)65278-9.Peer-Reviewed Original ResearchConceptsCytoplasmic localizationPhosphorylation sitesE-cadherin-mediated cell-cell adhesionGlycogen synthase kinase 3beta phosphorylation sitesMelanoma cell linesN-terminal phosphorylation sitesWnt pathwayExon 3 mutationsCell linesGlycogen synthase kinase-3betaFactor transcription factorsBeta-catenin accumulatesCell-cell adhesionSynthase kinase-3betaBeta-catenin exon 3 mutationsDNA sequencing studiesAdenomatous polyposis coliAxin proteinTranscription factorsKinase-3betaAmino terminusBeta-CateninBeta-catenin mutationsWnt pathway activationSequencing studies
1998
Polymerase chain reaction‐based detection of clonality as a non‐morphologic diagnostic tool for fine‐needle aspiration of the breast
Magda J, Minger B, Rimm D. Polymerase chain reaction‐based detection of clonality as a non‐morphologic diagnostic tool for fine‐needle aspiration of the breast. Cancer 1998, 84: 262-267. PMID: 9723602, DOI: 10.1002/(sici)1097-0142(19980825)84:4<262::aid-cncr12>3.0.co;2-q.Peer-Reviewed Original Research