2015
Pancreaticoduodenectomy for locally advanced colon cancer in hereditary nonpolyposis colorectal cancer
Zhu R, Grisotti G, Salem RR, Khan SA. Pancreaticoduodenectomy for locally advanced colon cancer in hereditary nonpolyposis colorectal cancer. World Journal Of Surgical Oncology 2015, 14: 12. PMID: 26769110, PMCID: PMC4714509, DOI: 10.1186/s12957-015-0755-7.Peer-Reviewed Original ResearchConceptsNonpolyposis colorectal cancerHereditary nonpolyposis colorectal cancerAdvanced colon cancerColorectal cancerColon cancerBetter long-term outcomesMulti-visceral resectionAdvanced colorectal cancerEarly-stage diseaseRare clinical entityLong-term outcomesSpecial surgical considerationsPaucity of dataAdvanced diseaseStage diseaseMultidisciplinary treatmentSubtotal colectomyPartial colectomyCase presentationWeClinical entitySurgical considerationsLynch syndromeCancerColectomyPancreaticoduodenectomy
2011
Bayesian Modeling for Genetic Anticipation in Presence of Mutational Heterogeneity: A Case Study in Lynch Syndrome
Boonstra P, Mukherjee B, Taylor J, Nilbert M, Moreno V, Gruber S. Bayesian Modeling for Genetic Anticipation in Presence of Mutational Heterogeneity: A Case Study in Lynch Syndrome. Biometrics 2011, 67: 1627-1637. PMID: 21627626, PMCID: PMC3176998, DOI: 10.1111/j.1541-0420.2011.01607.x.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge of OnsetAgedAnticipation, GeneticBayes TheoremChildChild, PreschoolColorectal Neoplasms, Hereditary NonpolyposisComputer SimulationDenmarkFemaleHumansInfantInfant, NewbornMaleMiddle AgedModels, GeneticModels, StatisticalMutationPolymorphism, Single NucleotidePrevalenceRisk AssessmentRisk FactorsYoung AdultConceptsLynch syndromeBirth cohortGenetic anticipationHereditary nonpolyposis colorectal cancerCancer registry dataNonpolyposis colorectal cancerDanish Cancer RegisterGenetic counseling clinicAge-specific incidenceHigh-risk familiesRandom-effects modelCancer RegisterRegistry dataCounseling clinicMismatch repairRandom effectsSecular trendsMedical practiceColorectal cancerSurvival analysis methodsEffects modelConfounding effectsLynchFlexible random effects modelModel fit diagnostics
2010
Improved Testing for Microsatellite Instability in Colorectal Cancer Using a Simplified 3-Marker Assay
Esemuede I, Forslund A, Khan SA, Qin LX, Gimbel MI, Nash GM, Zeng Z, Rosenberg S, Shia J, Barany F, Paty PB. Improved Testing for Microsatellite Instability in Colorectal Cancer Using a Simplified 3-Marker Assay. Annals Of Surgical Oncology 2010, 17: 3370-3378. PMID: 20703819, PMCID: PMC3269820, DOI: 10.1245/s10434-010-1147-4.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdolescentAdultAgedAged, 80 and overBiological AssayBiomarkers, TumorColorectal NeoplasmsComparative Genomic HybridizationDNA RepairDNA Repair EnzymesFemaleFollow-Up StudiesGenetic TestingGerm-Line MutationHumansLymphatic MetastasisMaleMicrosatellite InstabilityMicrosatellite RepeatsMiddle AgedOligonucleotide Array Sequence AnalysisPrognosisProspective StudiesSurvival RateYoung AdultConceptsHereditary nonpolyposis colorectal cancerColorectal cancerMicrosatellite instabilityMSI testingMSI tumorsMismatch repair protein lossBackgroundIn colorectal cancerDisease-specific survivalPredictive scoring systemNonpolyposis colorectal cancerMore BRAF mutationsDefective DNA mismatch repairNCI criteriaFavorable prognosisFavorable survivalKRAS mutationsBRAF mutationsMSI statusDistinct phenotypic propertiesScoring systemCancerValuable markerMSS cancersMethodsDNA samplesProtein lossAberrant DNA Methylation in Hereditary Nonpolyposis Colorectal Cancer Without Mismatch Repair Deficiency
Goel A, Xicola RM, Nguyen T, Doyle BJ, Sohn VR, Bandipalliam P, Rozek LS, Reyes J, Cordero C, Balaguer F, Castells A, Jover R, Andreu M, Syngal S, Boland CR, Llor X. Aberrant DNA Methylation in Hereditary Nonpolyposis Colorectal Cancer Without Mismatch Repair Deficiency. Gastroenterology 2010, 138: 1854-1862.e1. PMID: 20102720, PMCID: PMC2859993, DOI: 10.1053/j.gastro.2010.01.035.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAgedAged, 80 and overBase SequenceBasic Helix-Loop-Helix Transcription FactorsColorectal Neoplasms, Hereditary NonpolyposisCore Binding Factor Alpha 3 SubunitDNA MethylationDNA Mismatch RepairEpigenesis, GeneticFemaleGene Expression Regulation, NeoplasticGenetic Predisposition to DiseaseGenomic InstabilityHumansLong Interspersed Nucleotide ElementsMaleMicrosatellite RepeatsMiddle AgedMolecular Sequence DataMutationMutL Protein Homolog 1Nerve Tissue ProteinsNuclear ProteinsPedigreePhenotypeProto-Oncogene ProteinsProto-Oncogene Proteins B-rafProto-Oncogene Proteins p21(ras)ras ProteinsSpainSuppressor of Cytokine Signaling 1 ProteinSuppressor of Cytokine Signaling ProteinsUnited StatesConceptsHereditary nonpolyposis colorectal cancerNonpolyposis colorectal cancerHNPCC tumorsMismatch repair deficiencyColorectal cancerMicrosatellite instabilityGermline mismatch repair (MMR) gene mutationsLynch syndrome cancersMismatch repair gene mutationsRepair deficiencyBest diagnostic approachBRAF mutation statusRepair gene mutationsSporadic microsatellite instabilityV600E BRAF mutationLINE-1 methylationSyndrome cancersAmsterdam criteriaLynch syndromeKRAS mutationsTreatment responseBRAF mutationsHigh indexTumor behaviorCarcinogenic pathways
2009
Immunohistochemistry as First-line Screening for Detecting Colorectal Cancer Patients at Risk for Hereditary Nonpolyposis Colorectal Cancer Syndrome
Shia J, Tang L, Vakiani E, Guillem J, Stadler Z, Soslow R, Katabi N, Weiser M, Paty P, Temple L, Nash G, Wong W, Offit K, Klimstra D. Immunohistochemistry as First-line Screening for Detecting Colorectal Cancer Patients at Risk for Hereditary Nonpolyposis Colorectal Cancer Syndrome. The American Journal Of Surgical Pathology 2009, 33: 1639-1645. PMID: 19701074, DOI: 10.1097/pas.0b013e3181b15aa2.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenocarcinomaAdenosine TriphosphatasesBiomarkers, TumorColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA Repair EnzymesDNA-Binding ProteinsHumansImmunoenzyme TechniquesMass ScreeningMiddle AgedMismatch Repair Endonuclease PMS2MutationMutL Protein Homolog 1MutS Homolog 2 ProteinNeoplasm ProteinsNuclear ProteinsPredictive Value of TestsProspective StudiesRetrospective StudiesConceptsHereditary nonpolyposis colorectal cancerConcurrent loss of MSH2Hereditary nonpolyposis colorectal cancer syndromeHigher-than-average riskRevised Bethesda GuidelinesColorectal cancer syndromeNonpolyposis colorectal cancerIsolated loss of PMS2Colorectal cancerConcurrent loss of MLH1Mismatch repair protein abnormalitiesLoss of PMS2Loss of MLH1Screening colorectal cancerBethesda guidelinesLoss of MSH2Cancer syndromesDetecting colorectal cancer patientsFirst-line screeningYears of ageColorectal cancer patientsMismatch repair proteinsMSH6PMS2Clinical setting
2007
A Prospective, Multicenter, Population-Based Study of BRAF Mutational Analysis for Lynch Syndrome Screening
Bessa X, Ballesté B, Andreu M, Castells A, Bellosillo B, Balaguer F, Castellví–bel S, Paya A, Jover R, Alenda C, Titó L, Martinez–Villacampa M, Vilella A, Xicola RM, Pons E, Llor X, Association G. A Prospective, Multicenter, Population-Based Study of BRAF Mutational Analysis for Lynch Syndrome Screening. Clinical Gastroenterology And Hepatology 2007, 6: 206-214. PMID: 18096441, DOI: 10.1016/j.cgh.2007.10.011.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAgedAged, 80 and overAmino Acid SubstitutionColorectal Neoplasms, Hereditary NonpolyposisFemaleGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHumansMaleMiddle AgedMutL Protein Homolog 1MutL ProteinsNeoplasm ProteinsNuclear ProteinsPolymorphism, GeneticProspective StudiesProto-Oncogene Proteins B-rafConceptsSporadic colorectal cancerColorectal cancerCRC patientsMMR deficiencyBRAF mutationsV600E mutationGenetic testingGermline mutationsHereditary nonpolyposis colorectal cancerLynch syndrome screeningGermline genetic testingMLH1 germline mutationsPopulation-based studyGene mutation carriersMMR genes MLH1Nonpolyposis colorectal cancerBRAF V600E mutationBRAF mutational analysisMLH1 promoter methylationBRAF mutation analysisBRAF V600E mutation analysisMutation analysisBRAF analysisLynch syndromeFamily historySubclassification of microsatellite-unstable tumors in colorectal cancer
Ahuja N, Baylin S. Subclassification of microsatellite-unstable tumors in colorectal cancer. Current Colorectal Cancer Reports 2007, 3: 212-219. DOI: 10.1007/s11888-007-0033-3.Peer-Reviewed Original ResearchHereditary nonpolyposis colorectal cancerSporadic colorectal cancerColorectal cancerMMR genes MLH1Nonpolyposis colorectal cancerK-ras mutationsBRAF V600E mutationMicrosatellite-unstable tumorsMismatch repair genesVillous adenomaPathologic differencesHNPCC tumorsInherited syndromeTumor typesPolyp pathwayMicrosatellite instabilityCancerGermline mutationsMMR genesGenes MLH1TumorsInherited mutationsRepair genesMutationsEpigenetic silencing
2006
Cyclooxygenase 2 Expression in Colorectal Cancer with DNA Mismatch Repair Deficiency
Castells A, Payá A, Alenda C, Rodríguez-Moranta F, Agrelo R, Andreu M, Piñol V, Castellví-Bel S, Jover R, Llor X, Pons E, Elizalde JI, Bessa X, Alcedo J, Saló J, Medina E, Naranjo A, Esteller M, Piqué J, Association F. Cyclooxygenase 2 Expression in Colorectal Cancer with DNA Mismatch Repair Deficiency. Clinical Cancer Research 2006, 12: 1686-1692. PMID: 16551850, DOI: 10.1158/1078-0432.ccr-05-1581.Peer-Reviewed Original ResearchConceptsMMR-deficient colorectal cancerCOX-2 overexpressionCOX-2 expressionHereditary nonpolyposis colorectal cancerColorectal cancer patientsColorectal cancerGerm-line mutationsCancer patientsMLH1 expressionSporadic tumorsNonsteroidal anti-inflammatory drugsCOX-2 protein expressionDefective mismatch repair systemAmsterdam II criteriaDNA mismatch repair deficiencySubset of patientsAnti-inflammatory drugsCyclooxygenase-2 expressionCyclooxygenase-2 (COX-2) overexpressionNonpolyposis colorectal cancerMismatch repair deficiencyLack of responseMulticenter studyPatientsMSH2 expression
2005
Differential Features of Colorectal Cancers Fulfilling Amsterdam Criteria without Involvement of the Mutator Pathway
Llor X, Pons E, Xicola RM, Castells A, Alenda C, Piñol V, Andreu M, Castellví-Bel S, Payá A, Jover R, Bessa X, Girós A, Roca A, Gassull MA, Association F. Differential Features of Colorectal Cancers Fulfilling Amsterdam Criteria without Involvement of the Mutator Pathway. Clinical Cancer Research 2005, 11: 7304-7310. PMID: 16243801, DOI: 10.1158/1078-0432.ccr-05-0965.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAgedAged, 80 and overCarrier ProteinsCohort StudiesColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mutational AnalysisDNA-Binding ProteinsFemaleGerm-Line MutationHumansImmunohistochemistryMaleMicrosatellite RepeatsMiddle AgedMutationMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsProspective StudiesSpainConceptsHereditary nonpolyposis colorectal cancerHNPCC patientsAmsterdam criteriaColorectal cancerPathway alterationsMicrosatellite instabilityMetachronous adenomatous polypsLeft-sided tumorsMismatch repair gene mutationsAmsterdam II criteriaColorectal cancer patientsNonpolyposis colorectal cancerRepair gene mutationsMismatch repair deficiencyDetailed family historyMMR alterationsEndometrial cancerLymphocytic infiltratePathologic dataCancer patientsFamily historyAdenomatous polypsHNPCC familiesPatientsTumor DNAAccuracy of Revised Bethesda Guidelines, Microsatellite Instability, and Immunohistochemistry for the Identification of Patients With Hereditary Nonpolyposis Colorectal Cancer
Piñol V, Castells A, Andreu M, Castellví-Bel S, Alenda C, Llor X, Xicola RM, Rodríguez-Moranta F, Payá A, Jover R, Bessa X, Association F. Accuracy of Revised Bethesda Guidelines, Microsatellite Instability, and Immunohistochemistry for the Identification of Patients With Hereditary Nonpolyposis Colorectal Cancer. JAMA 2005, 293: 1986-1994. PMID: 15855432, DOI: 10.1001/jama.293.16.1986.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAgedCarrier ProteinsChromosomal InstabilityColorectal Neoplasms, Hereditary NonpolyposisCost-Benefit AnalysisDNA Mutational AnalysisDNA-Binding ProteinsFemaleGenetic Carrier ScreeningGenetic TestingGerm-Line MutationGuidelines as TopicHeterozygoteHumansImmunohistochemistryMaleMicrosatellite RepeatsMiddle AgedMutL Protein Homolog 1MutS Homolog 2 ProteinNeoplasm ProteinsNuclear ProteinsPredictive Value of TestsProspective StudiesProto-Oncogene ProteinsSensitivity and SpecificitySpainConceptsMicrosatellite instability testingBethesda guidelinesMLH1 germline mutationsInstability testingMicrosatellite instabilityGermline testingColorectal cancerGermline mutationsHereditary nonpolyposis colorectal cancerRevised Bethesda GuidelinesProtein expressionIdentification of patientsLogistic regression analysisNonpolyposis colorectal cancerMismatch repair deficiencyNational Cancer InstituteCancer genetic testingTumor characteristicsClinical parametersFamily historyNationwide studyIdentification of individualsCancer InstitutePatientsGenetic testingValue of Immunohistochemical Detection of DNA Mismatch Repair Proteins in Predicting Germline Mutation in Hereditary Colorectal Neoplasms
Shia J, Klimstra D, Nafa K, Offit K, Guillem J, Markowitz A, Gerald W, Ellis N. Value of Immunohistochemical Detection of DNA Mismatch Repair Proteins in Predicting Germline Mutation in Hereditary Colorectal Neoplasms. The American Journal Of Surgical Pathology 2005, 29: 96-104. PMID: 15613860, DOI: 10.1097/01.pas.0000146009.85309.3b.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenocarcinomaAdenomaAdultAgedBase Pair MismatchBiomarkers, TumorCarrier ProteinsColorectal NeoplasmsDNA Mutational AnalysisDNA-Binding ProteinsDNA, NeoplasmFemaleGerm-Line MutationHumansImmunoenzyme TechniquesMaleMicrosatellite RepeatsMiddle AgedMutL Protein Homolog 1MutS Homolog 2 ProteinNeoplasm ProteinsNuclear ProteinsProto-Oncogene ProteinsConceptsHereditary nonpolyposis colorectal cancerMicrosatellite instability testingFamily history of colorectal cancerIdentification of HNPCC familiesHistory of colorectal cancerGermline mutationsMismatch repair proteinsNonpolyposis colorectal cancerMLH1 germline mutationMSH2 germline mutationsMLH1 gene mutationColorectal cancerMicrosatellite instabilityMismatch repair mutationsMismatch repairHNPCC familiesMSH6 casesGermline mutation carriersPredicting mutation statusMSH6 geneColorectal neoplasmsIdentification of personsPredicting MSI statusFamily historyStudy sample
2003
Value of Histopathology in Predicting Microsatellite Instability in Hereditary Nonpolyposis Colorectal Cancer and Sporadic Colorectal Cancer
Shia J, Ellis N, Paty P, Nash G, Qin J, Offit K, Zhang X, Markowitz A, Nafa K, Guillem J, Wong W, Gerald W, Klimstra D. Value of Histopathology in Predicting Microsatellite Instability in Hereditary Nonpolyposis Colorectal Cancer and Sporadic Colorectal Cancer. The American Journal Of Surgical Pathology 2003, 27: 1407-1417. PMID: 14576473, DOI: 10.1097/00000478-200311000-00002.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenocarcinomaAdultAgedAged, 80 and overBiomarkers, TumorCarrier ProteinsColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mutational AnalysisDNA-Binding ProteinsDNA, NeoplasmFemaleGerm-Line MutationHumansLymphocytes, Tumor-InfiltratingMaleMicrosatellite RepeatsMiddle AgedMutL Protein Homolog 1MutS Homolog 2 ProteinNeoplasm ProteinsNuclear ProteinsPredictive Value of TestsProto-Oncogene ProteinsROC CurveSensitivity and SpecificityConceptsSporadic MSI-H tumorsHereditary nonpolyposis colorectal cancerNonpolyposis colorectal cancerMSI-H tumorsColorectal cancerFamily history of colorectal cancerHistory of colorectal cancerFamily historyHNPCC-associated cancersLevels of DNA microsatellite instabilityMSI-HDNA microsatellite instabilitySporadic colorectal cancerLogistic regression modelsAmsterdam criteriaMicrosatellite instabilityNon-MSI-H tumorsHNPCCOdds ratioPredicting MSI statusColorectal carcinomaSporadic groupTumor-infiltrating lymphocytesMSI-H colorectal carcinomasSurgical clinic
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