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 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
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