2022
Mutational 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 deficiencySyndrome
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 ResearchMeSH KeywordsColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairFemaleHumansMicrosatellite InstabilityMutL Protein Homolog 1Neoplastic Syndromes, HereditaryConceptsLynch-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 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