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
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
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 analysisAdenomasAbstractTextPolypsPatientsNeoplasia
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