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 ResearchColorectal cancerHeterozygous mutationsLynch-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
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 deficiencyRisk
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 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 markerColorectal 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 OUTCOME
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