2024
899 YALE CRITERIA FOR GENETIC TESTING IN CASES OF SUSPECTED HEREDITARY DIFFUSE GASTRIC CANCER (HDGC) ARE MORE SENSITIVE THAN IGCLC AND ERN GENTURIS CRITERIA IN A LARGE AMERICAN COHORT
Lerner B, Giner-Calabuig M, Carraway C, Richardson M, Krahn K, Susswein L, Heald B, Karam R, Xicola R, Llor X. 899 YALE CRITERIA FOR GENETIC TESTING IN CASES OF SUSPECTED HEREDITARY DIFFUSE GASTRIC CANCER (HDGC) ARE MORE SENSITIVE THAN IGCLC AND ERN GENTURIS CRITERIA IN A LARGE AMERICAN COHORT. Gastroenterology 2024, 166: s-215. DOI: 10.1016/s0016-5085(24)00984-3.Peer-Reviewed Original Research
2023
A novel non-invasive colorectal cancer diagnostic method: Volatile organic compounds as biomarkers
Alustiza M, Ripoll L, Canals A, Murcia O, Martínez-Roca A, García-Heredia A, Giner-Calabuig M, Jover R, Vidal L. A novel non-invasive colorectal cancer diagnostic method: Volatile organic compounds as biomarkers. Clinica Chimica Acta 2023, 542: 117273. PMID: 36863694, DOI: 10.1016/j.cca.2023.117273.Peer-Reviewed Original ResearchConceptsVolatile organic compoundsOrganic compoundsPre-malignant lesionsThermal desorption-gas chromatography-mass spectrometryFecal testsP-cresolSensitive analytical methodologyCancer samplesColorectal cancer screeningChromatography-mass spectrometryMagnetic graphene oxideCRC patient samplesFecal samplesExtractant phaseSpecificity 63Cancer screeningStool samplesAdenomatous polypsCRC detectionGraphene oxideSpecificity 79Adsorptive extractionSensitivity 83Analytical methodologyPatient samples
2022
Tu1100: HETEROZYGOUS MUTATIONS IN DNA REPAIR GENES CONFER GENETIC SUSCEPTIILITY TO COLORECTAL CANCER AMONG LYNCH-LIKE CASES
Giner-Calabuig M, De Leon S, Vidal-Pedrola G, Fehlmann T, Ukaegbu C, Gibson J, Picó M, Alenda C, Reyes J, Ortega S, LLado C, de la Torre Rubio P, Obrador-Hevia A, Castillejo A, Soto J, Castellví-Bel S, Syngal S, Stoffel E, Ellis N, Jover R, Llor X, Xicola R. Tu1100: HETEROZYGOUS MUTATIONS IN DNA REPAIR GENES CONFER GENETIC SUSCEPTIILITY TO COLORECTAL CANCER AMONG LYNCH-LIKE CASES. Gastroenterology 2022, 162: s-883. DOI: 10.1016/s0016-5085(22)62088-2.Peer-Reviewed Original ResearchMutational signature profiling classifies subtypes of clinically different mismatch-repair-deficient tumours with a differential immunogenic response potential
Giner-Calabuig M, De Leon S, Wang J, Fehlmann TD, Ukaegbu C, Gibson J, Alustiza-Fernandez M, Pico MD, Alenda C, Herraiz M, Carrillo-Palau M, Salces I, Reyes J, Ortega SP, Obrador-Hevia A, Cecchini M, Syngal S, Stoffel E, Ellis NA, Sweasy J, Jover R, Llor X, Xicola RM. Mutational signature profiling classifies subtypes of clinically different mismatch-repair-deficient tumours with a differential immunogenic response potential. British Journal Of Cancer 2022, 126: 1595-1603. PMID: 35197584, PMCID: PMC9130322, DOI: 10.1038/s41416-022-01754-1.Peer-Reviewed Original ResearchConceptsLynch-like syndromeMMR-deficient tumorsLynch syndromeMicrosatellite instabilityPercent of tumorsMSH2/MSH6 expressionColorectal cancer tumorsPMS2 protein expressionMutational signaturesResultsFifty-three percentClinical managementNeoantigen presentationMSH6 expressionHallmark of tumorsTumor behaviorMMR deficiencyClinical phenotypeDeficient tumorsTumorsSporadic tumorsCancer tumorsMutational profileProtein expressionRepair deficiencySyndromeLynch-like Syndrome: Potential Mechanisms and Management
Martínez-Roca A, Giner-Calabuig M, Murcia O, Castillejo A, Soto JL, García-Heredia A, Jover R. Lynch-like Syndrome: Potential Mechanisms and Management. Cancers 2022, 14: 1115. PMID: 35267422, PMCID: PMC8909420, DOI: 10.3390/cancers14051115.Peer-Reviewed Original ResearchLynch-like syndromeMicrosatellite instabilityLynch syndromeSporadic casesCommon hereditary colorectal cancer syndromeHereditary colorectal cancer syndromesGermline mutationsPotential mechanismsColorectal cancer syndromeFirst-degree relativesProportion of casesColon cancer casesPrevention of cancerAutosomal dominant disorderMMR immunohistochemistryColorectal cancerMismatch repair system genesCancer casesCancer syndromesSyndromeHereditary casesTumor samplesMMR genesDominant disorderMMR proteins
2021
Effects of Somatic Methylation in Colonic Polyps on Risk of Developing Metachronous Advanced Colorectal Lesions
Murcia O, Martínez-Roca A, Juárez M, Giner-Calabuig M, Alustiza M, Mira C, Mangas-Sanjuan C, Serrano E, Ruiz-Gómez FA, Baile-Maxia S, Medina L, Alenda C, Payá A, Rodriguez-Soler M, Zapater P, Jover R. Effects of Somatic Methylation in Colonic Polyps on Risk of Developing Metachronous Advanced Colorectal Lesions. Cancers 2021, 13: 246. PMID: 33440809, PMCID: PMC7827613, DOI: 10.3390/cancers13020246.Peer-Reviewed Original ResearchCpG island methylator phenotypeAdvanced colorectal lesionsColorectal lesionsColonic polypsRetrospective cohort studyHigh-grade dysplasiaNegative predictive valueBaseline colonoscopyCohort studyConsecutive patientsEndoscopic surveillancePathological characteristicsVillous componentSerrated lesionsPredictive valuePatientsUseful markerSomatic hypermethylationPolyp sizePolypsLesionsMethylator phenotypeSomatic methylationDysplasiaRisk
2020
Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome
Picó MD, Sánchez-Heras AB, Castillejo A, Giner-Calabuig M, Alustiza M, Sánchez A, Moreira L, Pellise M, Castells A, Llort G, Yagüe C, Ramon y Cajal T, Gisbert-Beamud A, Cubiella J, Rivas L, Herraiz M, Garau C, Salces I, Carrillo-Palau M, Bujanda L, López-Fernández A, Alvarez-Urturi C, López MJ, Alenda C, Zapater P, Lacueva FJ, Balaguer F, Soto JL, Murcia Ó, Jover R. Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome. Cancers 2020, 12: 2225. PMID: 32784934, PMCID: PMC7466118, DOI: 10.3390/cancers12082225.Peer-Reviewed Original ResearchFDRs of patientsLynch-like syndromeFirst-degree relativesStandardized incidence ratiosColorectal cancerLynch syndromeLLS patientsRisk of CRCHereditary colorectal cancerPathogenic mutationsGermline pathogenic mutationsRisk of cancerLoss of MLH1Mismatch repair deficiencyCRC patientsIncidence ratiosLS patientsImmunohistochemical lossCommon causeHigh incidencePatientsNeoplasmsSyndromeRepair deficiencyRiskTu1212 RELEVANT HETEROGENEITY IN MISMATCH REPAIR DEFICIENT TUMORS
Giner-Calabuig M, Ukaegbu C, Syngal S, Stoffel E, Jover R, Llor X, Xicola R. Tu1212 RELEVANT HETEROGENEITY IN MISMATCH REPAIR DEFICIENT TUMORS. Gastroenterology 2020, 158: s-1020. DOI: 10.1016/s0016-5085(20)33223-6.Peer-Reviewed Original ResearchIncreased Th17-Related Cytokine Serum Levels in Patients With Multiple Polyps of Unexplained Origin
Alustiza M, Hernández-Illán E, Juárez M, Giner-Calabuig M, Mira C, Martínez-Roca A, Bujanda L, Rodríguez-Moranta F, Cubiella J, de-Castro L, Marín-Gabriel JC, Herreros-de-Tejada A, Fernández-Bañares F, Nicolás-Pérez D, Giménez P, Martínez-Cardona C, Francés R, Murcia O, Jover R. Increased Th17-Related Cytokine Serum Levels in Patients With Multiple Polyps of Unexplained Origin. Clinical And Translational Gastroenterology 2020, 11: e00143. PMID: 32352715, PMCID: PMC7145049, DOI: 10.14309/ctg.0000000000000143.Peer-Reviewed Original ResearchConceptsC-reactive proteinMultiple colonic polypsCytokine serum levelsIL-17AIL-6IL-4IL-2Colonic polypsIL-23Serum levelsMultiple polypsHigh-sensitivity enzyme-linked immunosorbentSerum/bloodControl peopleEnzyme-linked immunosorbentLevels of glucoseCytokine levelsMost patientsNormal colonoscopyTh17 cellsBasal insulinIL-10Smoking habitsInflammatory cytokinesImmune response
2019
Clinical and Pathological Characterization of Lynch-Like Syndrome
Picó MD, Castillejo A, Murcia Ó, Giner-Calabuig M, Alustiza M, Sánchez A, Moreira L, Pellise M, Castells A, Carrillo-Palau M, Ramon Y Cajal T, Gisbert-Beamud A, Llort G, Yagüe C, López-Fernández A, Alvarez-Urturi C, Cubiella J, Rivas L, Rodríguez-Alcalde D, Herraiz M, Garau C, Dolz C, Bujanda L, Cid L, Povés C, Garzon M, Salces I, Ponce M, Hernández-Villalba L, Alenda C, Balaguer F, Soto JL, Jover R. Clinical and Pathological Characterization of Lynch-Like Syndrome. Clinical Gastroenterology And Hepatology 2019, 18: 368-374.e1. PMID: 31220642, DOI: 10.1016/j.cgh.2019.06.012.Peer-Reviewed Original ResearchConceptsLynch-like syndromeColorectal cancerLynch syndromeFamily historyPathology featuresDiagnosis of CRCLynch syndrome-related tumorsDNA MMR deficiencyDNA mismatch repair deficiencyManagement of patientsFisher's exact testLoss of MSH2Mismatch repair deficiencyStudent's t-testMann-Whitney testBethesda criteriaPathology findingsMean agePathology characteristicsAmsterdam IGuideline criteriaUniversal screeningColorectal tumorsPatientsExact test
2018
Colorectal cancer molecular classification using BRAF, KRAS, microsatellite instability and CIMP status: Prognostic implications and response to chemotherapy
Murcia O, Juárez M, Rodríguez-Soler M, Hernández-Illán E, Giner-Calabuig M, Alustiza M, Egoavil C, Castillejo A, Alenda C, Barberá V, Mangas-Sanjuan C, Yuste A, Bujanda L, Clofent J, Andreu M, Castells A, Llor X, Zapater P, Jover R. Colorectal cancer molecular classification using BRAF, KRAS, microsatellite instability and CIMP status: Prognostic implications and response to chemotherapy. PLOS ONE 2018, 13: e0203051. PMID: 30188916, PMCID: PMC6126803, DOI: 10.1371/journal.pone.0203051.Peer-Reviewed Original ResearchConceptsDisease-free survivalColorectal cancerMicrosatellite instabilityCIMP statusTNM stageKRAS mutationsBRAF mutationsMSS tumorsMolecular classificationAdvanced stage IIRetrospective observational studyPopulation-based cohortCpG island methylator phenotype (CIMP) statusCancer molecular classificationSomatic KRASAdjuvant chemotherapyAdjuvant treatmentCRC patientsPrognostic implicationsWorse prognosisPrognostic valueClinical criteriaObservational studyMolecular subtypesMAIN OUTCOME1071 - Clinical and Molecular Characterization of Lynch-Like Syndrome
Picó M, Jover R, Murcia O, Giner-Calabuig M, Alustiza M, Soto J, Castillejo A, Sánchez A, Sanchez A, Balaguer F, Moreira L, Castells A, Pellise M, Carrillo-Palau M, Gisbert-Beamud A, Ramon y Cajal T, llort G, Yagüe C, Fernandez A, Balmaña J, de Castro E, Alvarez C, Bessa X, Cubiella J, Rivas L, Rodríguez-Alcalde D, Dacal A, Herraiz M, Garau C, Bujanda L, Cid L, Povés C, Garzon M, Pizarro A, Salces I, Ponce M, Aguirre E, Saperas E, Piñol V. 1071 - Clinical and Molecular Characterization of Lynch-Like Syndrome. Gastroenterology 2018, 154: s-206-s-207. DOI: 10.1016/s0016-5085(18)31086-2.Peer-Reviewed Original ResearchMo1978 - Comprehensive Analysis of Methylation Field Defect in Colorectal Carcinogenesis
Hernandez-Illan E, Lozano J, Juárez M, Muñoz J, Quintanilla I, Vila-Casadesus M, Giner-Calabuig M, Alustiza M, Alenda C, Cuatrecasas M, Jung G, Carballal S, Pellise M, Rivero L, Sanchez A, Moreno L, Castells A, Castillejo A, Soto J, Camps J, Jover R, Balaguer F. Mo1978 - Comprehensive Analysis of Methylation Field Defect in Colorectal Carcinogenesis. Gastroenterology 2018, 154: s-870. DOI: 10.1016/s0016-5085(18)32941-x.Peer-Reviewed Original ResearchColorectal cancer molecular classification using BRAF, KRAS, microsatellite instability, and CIMP status: Prognostic implications and response to chemotherapy.
Murcia O, Juárez M, Hernández-Illán E, Rodriguez-Soler M, Giner-Calabuig M, Alustiza M, Egoavil C, Castillejo A, Alenda C, Mangas C, Barberá V, Yuste A, Bujanda L, Clofent J, Andreu M, Castells A, Llor X, Zapater P, Jover R. Colorectal cancer molecular classification using BRAF, KRAS, microsatellite instability, and CIMP status: Prognostic implications and response to chemotherapy. Journal Of Clinical Oncology 2018, 36: 668-668. DOI: 10.1200/jco.2018.36.4_suppl.668.Peer-Reviewed Original ResearchDisease-free survivalColorectal cancerMicrosatellite instabilityCIMP statusTNM stageKRAS mutationsBRAF mutationsMSS tumorsMolecular classificationAdvanced stage IIRetrospective observational studyPopulation-based cohortCpG island methylator phenotype (CIMP) statusCancer molecular classificationSomatic KRASAdjuvant chemotherapyAdjuvant treatmentCRC patientsWorse prognosisPrognostic implicationsPrognostic valueClinical criteriaObservational studyMolecular subtypesMAIN OUTCOMEGenetic profile of polyps and risk of advanced metachronous lesions.
Murcia O, Juárez M, Rodriguez-Soler M, Hernández-Illán E, Egoavil C, Giner-Calabuig M, Alustiza M, Alenda C, Mangas C, García A, Aparicio J, Ruiz F, Martínez J, Casellas J, Soto J, Zapater P, Jover R. Genetic profile of polyps and risk of advanced metachronous lesions. Journal Of Clinical Oncology 2018, 36: 555-555. DOI: 10.1200/jco.2018.36.4_suppl.555.Peer-Reviewed Original ResearchMetachronous lesionsFirst colonoscopyUnivariate analysisHigh riskMultivariate analysisKaplan-Meier survival curvesLogistic regressionGenetic profileMeier survival curvesCox regression modelHigh-grade dysplasiaLog-rank testNumber of colonoscopiesFamilial colorectal cancerChi-square testCohort studyColonoscopy surveillanceCharacteristics of polypsColorectal cancerGrade dysplasiaVillous componentKRAS mutationsReal-time PCRBRAF mutationsIndependent marker
2017
KRAS and BRAF somatic mutations in colonic polyps and the risk of metachronous neoplasia
Juárez M, Egoavil C, Rodríguez-Soler M, Hernández-Illán E, Guarinos C, García-Martínez A, Alenda C, Giner-Calabuig M, Murcia O, Mangas C, Payá A, Aparicio JR, Ruiz FA, Martínez J, Casellas JA, Soto JL, Zapater P, Jover R. KRAS and BRAF somatic mutations in colonic polyps and the risk of metachronous neoplasia. PLOS ONE 2017, 12: e0184937. PMID: 28953955, PMCID: PMC5617162, DOI: 10.1371/journal.pone.0184937.Peer-Reviewed Original ResearchConceptsAdvanced adenomasKRAS mutationsColonic polypsAdvanced neoplasiaAdvanced polypsMetachronous advanced neoplasiaHigh-grade dysplasiaSomatic KRAS mutationsBRAF somatic mutationsMetachronous neoplasiaSurveillance colonoscopyPathologic characteristicsSplenic flexureGrade dysplasiaVillous componentUnivariate analysisSerrated polypsRisk featuresSomatic BRAFMultivariate analysisAdenomasAbstractTextPolypsPatientsNeoplasiaSu1736 Genetic Profile of Polyps and Risk of Advanced Metachronous Lesions
Murcia O, Juárez M, Egoavil C, Rodriguez-Soler M, Guarinos C, Alenda C, Garcia-Martinez A, Giner-Calabuig M, Mangas C, Aparicio J, Ruiz-Gómez F, Martínez J, Casellas J, Soto J, Zapater P, Jover R. Su1736 Genetic Profile of Polyps and Risk of Advanced Metachronous Lesions. Gastroenterology 2017, 152: s541. DOI: 10.1016/s0016-5085(17)31971-6.Peer-Reviewed Original Research
2016
Serrated colorectal cancer: Molecular classification, prognosis, and response to chemotherapy
Murcia O, Juárez M, Hernández-Illán E, Egoavil C, Giner-Calabuig M, Rodríguez-Soler M, Jover R. Serrated colorectal cancer: Molecular classification, prognosis, and response to chemotherapy. World Journal Of Gastroenterology 2016, 22: 3516-3530. PMID: 27053844, PMCID: PMC4814638, DOI: 10.3748/wjg.v22.i13.3516.Peer-Reviewed Original ResearchMeSH KeywordsAntineoplastic AgentsBiomarkers, TumorColorectal NeoplasmsCpG IslandsDNA MethylationGenetic Predisposition to DiseaseHumansMicrosatellite InstabilityMolecular Diagnostic TechniquesMutationNeoplasm StagingPhenotypePredictive Value of TestsProto-Oncogene Proteins B-rafProto-Oncogene Proteins p21(ras)Treatment OutcomeConceptsColorectal cancerSerrated pathwayGene mutationsKRAS gene mutationsBRAF gene mutationClinical featuresColorectal carcinogenesisMolecular alterationsMicrosatellite instabilityHistological analysisSerrated appearanceTumor suppressor geneMolecular classificationAlternative pathwayChemotherapyPrognosisMolecular advancesSuppressor geneGenetic profileNew classificationPathwayHypermethylationTumorsCancerMutations