2014
Genetic alterations in chondrosarcomas – keys to targeted therapies?
Samuel AM, Costa J, Lindskog DM. Genetic alterations in chondrosarcomas – keys to targeted therapies? Cellular Oncology 2014, 37: 95-105. PMID: 24458248, DOI: 10.1007/s13402-014-0166-8.Peer-Reviewed Original ResearchConceptsBenign cartilaginous lesionsCartilaginous lesionsMalignant transformationIhh/PTHrPTwo-hit scenarioPrimary bone tumorsGenetic alterationsDruggable molecular targetsKey genetic alterationsHuman tumor typesResultsCurrent dataBone tumorsMalignant tumorsSarcoma typesMalignant chondrosarcomasKey molecular changesNormal cell cycle controlTumor typesMalignant cellsChondrosarcoma developmentLesionsMolecular targetsTumorsEarly-stage eventsDifferentiation of chondrocytes
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
2001
Multiplex Detection of Hotspot Mutations by Rolling Circle-Enabled Universal Microarrays
Ladner D, Leamon J, Hamann S, Tarafa G, Strugnell T, Dillon D, Lizardi P, Costa J. Multiplex Detection of Hotspot Mutations by Rolling Circle-Enabled Universal Microarrays. Laboratory Investigation 2001, 81: 1079-1086. PMID: 11502859, DOI: 10.1038/labinvest.3780320.Peer-Reviewed Original ResearchRapid, Efficient Genotyping of Clinical Tumor Samples by Laser-Capture Microdissection/PCR/SSCP
Dillon D, Zheng K, Costa J. Rapid, Efficient Genotyping of Clinical Tumor Samples by Laser-Capture Microdissection/PCR/SSCP. Experimental And Molecular Pathology 2001, 70: 195-200. PMID: 11417998, DOI: 10.1006/exmp.2001.2362.Peer-Reviewed Original ResearchConceptsLaser capture microdissectionP53 exons 5PCR/SSCPTumor genotypingPure tumor cell populationsSSCP/sequencingSurgical pathology reportsRoutine clinical useClinical tumor samplesExon 5Colorectal adenocarcinomaTherapeutic responsePathology reportsTumor cell populationLaser-microdissected samplesClinical practiceTumor samplesClinical useSporadic mutationsExon 1Molecular analysisCell populationsDirect sequencingMutation analysisPCR productsDetection of the Mutated K-Ras Biomarker in Colorectal Carcinoma
Doolittle B, Emanuel J, Tuttle C, Costa J. Detection of the Mutated K-Ras Biomarker in Colorectal Carcinoma. Experimental And Molecular Pathology 2001, 70: 289-301. PMID: 11418008, DOI: 10.1006/exmp.2001.2364.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkers, TumorColorectal NeoplasmsDeoxyribonuclease EcoRIDNADNA, NeoplasmFecesGenes, rasHumansIndicators and ReagentsMutationPolymerase Chain ReactionPolymorphism, Single-Stranded ConformationalQuaternary Ammonium CompoundsReference ValuesReproducibility of ResultsSite-Specific DNA-Methyltransferase (Adenine-Specific)Trimethyl Ammonium CompoundsConceptsColorectal carcinomaStool samplesHealthy patientsK-rasReliable screening testDouble-blind formatK-ras mutationsWild-type K-rasK-ras oncogeneK-ras sequencesCommon malignancyCRC tumorsPolymerase chain reactionEarly lesionsStool DNANoninvasive screenScreening testTumor tissueGenetic biomarkersHuman stoolPatientsEarly detectionHigh false positive rateSingle-strand conformation polymorphismTissue DNA
2000
The utility of Ki-ras mutation analysis in the cytologic diagnosis of pancreatobiliary neoplasma.
Dillon DA, Johnson CC, Topazian MD, Tallini G, Rimm DL, Costa JC. The utility of Ki-ras mutation analysis in the cytologic diagnosis of pancreatobiliary neoplasma. The Cancer Journal 2000, 6: 294-301. PMID: 11079168.Peer-Reviewed Original ResearchConceptsFine needle aspiratesBile duct brushingsCytologic diagnosisPositive predictive valueCommon bile duct brushingsDuct brushingsPancreatobiliary carcinomaPredictive valueMutation patternsBiliary tract carcinomaPrevious retrospective studyAvailable clinical informationConsecutive clinical specimensDefinitive cytologic diagnosisPolymerase chain reaction/single-strand conformation polymorphism analysisRoutine cytologic diagnosisPositive cytologyRetrospective studySuspicious morphologyCytologic evaluationSuspicious cytologyPancreatobiliary tractClinical informationMorphologic diagnosisNeoplastic cells
1996
Identification of mutations in the Ki-ras gene in human retinoblastoma.
Bautista D, Emanuel J, Granville C, Howard R, Costa J. Identification of mutations in the Ki-ras gene in human retinoblastoma. Investigative Ophthalmology & Visual Science 1996, 37: 2313-7. PMID: 8843915.Peer-Reviewed Original ResearchConceptsKi-ras geneKi-rasIdentification of mutationsSelective growth advantageGenomic sequencesSingle-strand conformation polymorphismGrowth advantageTumor cell populationGenesExon 1Ki-ras mutationsMutationsExon 2Cell populationsConformation polymorphismHuman retinoblastomaClonal mutationsDirect sequencingPolymerase chain reactionTumor samplesLight microscopyMutational statusChain reactionRetinoblastomaOncogene
1994
K-ras mutations and p53 alterations in neoplastic and nonneoplastic lesions associated with longstanding ulcerative colitis.
Chaubert P, Benhattar J, Saraga E, Costa J. K-ras mutations and p53 alterations in neoplastic and nonneoplastic lesions associated with longstanding ulcerative colitis. American Journal Of Pathology 1994, 144: 767-75. PMID: 8160776, PMCID: PMC1887244.Peer-Reviewed Original ResearchConceptsK-ras mutationsLongstanding ulcerative colitisUlcerative colitisP53 alterationsActive colitisDysplastic lesionsK-rasGenetic alterationsP53 gene alterationsP53 genetic alterationsCombination of immunohistochemistryK-ras geneNonneoplastic lesionsColorectal carcinomaInvasive carcinomaColonic carcinomaDysplastic mucosaEpithelial lesionsInvasive tumorsColitisSame patientCarcinomaSporadic carcinomasLesionsNontumor samples
1992
Stability of K-ras mutations throughout the natural history of human colorectal cancer
Losi L, Benhattar J, Costa J. Stability of K-ras mutations throughout the natural history of human colorectal cancer. European Journal Of Cancer 1992, 28: 1115-1120. PMID: 1627381, DOI: 10.1016/0959-8049(92)90468-h.Peer-Reviewed Original ResearchConceptsK-ras mutationsPrimary tumorRas mutationsNatural historyColorectal cancerTumor markersStable tumor markerHuman colorectal cancerDistant recurrenceRecurrent cancerRecurrent tumorsPolymerase chain reactionColorectal carcinomaCodon 12TumorsArchival tissueCancerChain reactionAllele-specific amplificationPatientsRecurrenceMarkersMutationsCarcinomaDisease
1991
Occurrence of Ki-ras and p53 mutations in primary colorectal tumors.
Shaw P, Tardy S, Benito E, Obrador A, Costa J. Occurrence of Ki-ras and p53 mutations in primary colorectal tumors. Oncogene 1991, 6: 2121-8. PMID: 1945416.Peer-Reviewed Original Research