2010
Aberrant 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
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 history
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 testing