2021
xDEEP-MSI: Explainable Bias-Rejecting Microsatellite Instability Deep Learning System in Colorectal Cancer
Bustos A, Payá A, Torrubia A, Jover R, Llor X, Bessa X, Castells A, Carracedo Á, Alenda C. xDEEP-MSI: Explainable Bias-Rejecting Microsatellite Instability Deep Learning System in Colorectal Cancer. Biomolecules 2021, 11: 1786. PMID: 34944430, PMCID: PMC8699085, DOI: 10.3390/biom11121786.Peer-Reviewed Original ResearchAnalysis of Survival Among Adults With Early-Onset Colorectal Cancer in the National Cancer Database
Cheng E, Blackburn HN, Ng K, Spiegelman D, Irwin ML, Ma X, Gross CP, Tabung FK, Giovannucci EL, Kunz PL, Llor X, Billingsley K, Meyerhardt JA, Ahuja N, Fuchs CS. Analysis of Survival Among Adults With Early-Onset Colorectal Cancer in the National Cancer Database. JAMA Network Open 2021, 4: e2112539. PMID: 34132794, PMCID: PMC8209612, DOI: 10.1001/jamanetworkopen.2021.12539.Peer-Reviewed Original ResearchConceptsEarly-onset colorectal cancerOnset colorectal cancerNational Cancer DatabaseColorectal cancerAge 51Overall survivalCancer DatabaseIncidence of CRCCox proportional hazards regressionPrimary colorectal cancerKaplan-Meier analysisProportional hazards regressionAge 50 yearsAge 25 yearsAnalysis of survivalCohort studySurvival benefitHazards regressionUnadjusted analysesCancer incidenceMAIN OUTCOMEAge 35Survival advantageLower riskStage IExome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer
Fernández-Rozadilla C, Álvarez-Barona M, Quintana I, López-Novo A, Amigo J, Cameselle-Teijeiro J, Roman E, Gonzalez D, Llor X, Bujanda L, Bessa X, Jover R, Balaguer F, Castells A, Castellví-Bel S, Capellá G, Carracedo A, Valle L, Ruiz-Ponte C. Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer. Scientific Reports 2021, 11: 11135. PMID: 34045552, PMCID: PMC8159954, DOI: 10.1038/s41598-021-90590-z.Peer-Reviewed Original ResearchMeSH KeywordsAdultColorectal NeoplasmsDNA HelicasesDNA Repair EnzymesDNA-Binding ProteinsExomeExome SequencingFemaleGene Expression Regulation, NeoplasticGenetic HeterogeneityGenetic Predisposition to DiseaseHumansMaleMethyltransferasesMiddle AgedPoly-ADP-Ribose Binding ProteinsProtein Tyrosine Phosphatase, Non-Receptor Type 13ConceptsEarly-onset CRC patientsColorectal cancerCRC patientsEarly-onset patientsGenetic variantsPotential risk allelesCRC onsetYoungest caseCRC developmentIndependent patientsPatientsTruncating variantsRisk allelesExome sequencingNovel genetic variantsRobust studiesTDG geneDisease developmentCandidate variantsCancerMolecular heterogeneityDiseaseComplex diseasesGenetic heterogeneityHigh-impact variantsPhenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant
MacFarland SP, Ebrahimzadeh JE, Zelley K, Begum L, Bass LM, Brand RE, Dudley B, Fishman DS, Ganzak A, Karloski E, Latham A, Llor X, Plon S, Riordan MK, Scollon SR, Stadler ZK, Syngal S, Ukaegbu C, Weiss JM, Yurgelun MB, Brodeur GM, Mamula P, Katona BW. Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant. Cancer Prevention Research 2021, 14: 215-222. PMID: 33097490, PMCID: PMC8557953, DOI: 10.1158/1940-6207.capr-20-0348.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge FactorsAgedBone Morphogenetic Protein Receptors, Type IChildChild, PreschoolColectomyColonoscopyFemaleFollow-Up StudiesGerm-Line MutationHumansIntestinal PolyposisMaleMedical History TakingMiddle AgedNeoplastic Syndromes, HereditaryPractice Guidelines as TopicPrecision MedicineSmad4 ProteinWatchful WaitingYoung AdultConceptsJuvenile polyposis syndromePolyposis syndromeFamily historyDisease-causing variantsCancer riskGermline disease-causing variantsGastrointestinal cancer predisposition syndromesUpper gastrointestinal polypsHamartomatous polyposis syndromesCancer predisposition syndromeLifelong surveillanceAdult centersDuodenal polypsGastrointestinal cancerCancer historySubgroup analysisIndividualized managementLower riskGastrointestinal polypsPredisposition syndromeSyndromeYounger ageDistinct phenotypic differencesLower likelihoodGastrectomy
2019
Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria
Xicola RM, Li S, Rodriguez N, Reinecke P, Karam R, Speare V, Black MH, LaDuca H, Llor X. Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria. Journal Of Medical Genetics 2019, 56: 838. PMID: 31296550, DOI: 10.1136/jmedgenet-2019-105991.Peer-Reviewed Original ResearchConceptsHereditary diffuse gastric cancerPathogenic variant carriersBreast cancerGastric cancerClinical criteriaCancer riskVariant carriersMultigene panel testingCancer genetics programCancer phenotypePathogenic CDH1 variantsGastric cancer riskBreast cancer familiesDiffuse gastric cancerCancer risk estimationGenotype-phenotype correlationClinical featuresCumulative cancer riskHDGC criteriaCumulative riskAge 80CDH1 variantsPanel testingClinical phenotypePathogenic variantsImplication of DNA repair genes in Lynch-like syndrome
Xicola RM, Clark JR, Carroll T, Alvikas J, Marwaha P, Regan MR, Lopez-Giraldez F, Choi J, Emmadi R, Alagiozian-Angelova V, Kupfer SS, Ellis NA, Llor X. Implication of DNA repair genes in Lynch-like syndrome. Familial Cancer 2019, 18: 331-342. PMID: 30989425, PMCID: PMC6561810, DOI: 10.1007/s10689-019-00128-6.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overColorectal Neoplasms, Hereditary NonpolyposisDNA MethylationDNA Mismatch RepairDNA-Binding ProteinsFemaleGerm-Line MutationHeterozygoteHumansMaleMicrosatellite InstabilityMiddle AgedMismatch Repair Endonuclease PMS2MutL Protein Homolog 1MutS Homolog 2 ProteinSequence Analysis, DNAConceptsLLS patientsDistinct mutational signaturesGenome integrityLynch syndromeMutational signaturesMicrosatellite instabilityGermline mutationsColorectal cancerSequence analysisRepair genesSomatic MMR gene mutationsLS casesConsecutive CRC patientsMutational profileSomatic mutationsLynch-like syndromeL mutationMMR gene mutationsDNA repair genesFirst-degree relativesLikely pathogenic variantsSingle nucleotide variantsMLH1 promoter methylationTumor mutational profileExhibit microsatellite instability
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
Race-dependent association of sulfidogenic bacteria with colorectal cancer
Yazici C, Wolf PG, Kim H, Cross TL, Vermillion K, Carroll T, Augustus GJ, Mutlu E, Tussing-Humphreys L, Braunschweig C, Xicola RM, Jung B, Llor X, Ellis NA, Gaskins HR. Race-dependent association of sulfidogenic bacteria with colorectal cancer. Gut 2017, 66: 1983. PMID: 28153960, PMCID: PMC5575988, DOI: 10.1136/gutjnl-2016-313321.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedBlack or African AmericanCase-Control StudiesChicagoColonColorectal NeoplasmsDietDietary FatsDietary ProteinsFemaleHealth Status DisparitiesHumansIntestinal MucosaMaleMiddle AgedProspective StudiesReal-Time Polymerase Chain ReactionRisk FactorsSulfur-Reducing BacteriaWhite PeopleConceptsNon-Hispanic whitesEnvironmental risk factorsRisk factorsAA casesCRC casesColonic mucosaCRC developmentDisease statusAfrican AmericansCRC risk factorsUninvolved colonic mucosaColorectal cancer incidencePotential environmental risk factorsTumor-free controlsMultiple dietary componentsRace-dependent associationsEffect of dietColonic biopsiesColorectal cancerDaily servingsHealthy mucosaCancer incidenceDietary intakeProinflammatory pathwaysDiet high
2016
Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC)
Xicola RM, Bontu S, Doyle BJ, Rawson J, Garre P, Lee E, de la Hoya M, Bessa X, Clofent J, Bujanda L, Balaguer F, Castellví-Bel S, Alenda C, Jover R, Ruiz-Ponte C, Syngal S, Andreu M, Carracedo A, Castells A, Newcomb PA, Lindor N, Potter JD, Baron JA, Ellis NA, Caldes T, LLor X. Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC). Carcinogenesis 2016, 37: 751-758. PMID: 27234654, PMCID: PMC4967215, DOI: 10.1093/carcin/bgw064.Peer-Reviewed Original ResearchAdultAgedAllelesAxin ProteinBeta CateninBinding SitesColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA Modification MethylasesDNA Repair EnzymesFemaleGene Expression Regulation, NeoplasticGenotypeHumansMaleMicrosatellite InstabilityMiddle AgedProtein Serine-Threonine KinasesReceptor, Transforming Growth Factor-beta Type IReceptor, Transforming Growth Factor-beta Type IIReceptors, Transforming Growth Factor betaTumor Suppressor Proteins
2015
Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome
Santa Cruz Guindalini R, Win AK, Gulden C, Lindor NM, Newcomb PA, Haile RW, Raymond V, Stoffel E, Hall M, Llor X, Ukaegbu CI, Solomon I, Weitzel J, Kalady M, Blanco A, Terdiman J, Shuttlesworth GA, Lynch PM, Hampel H, Lynch HT, Jenkins MA, Olopade OI, Kupfer SS. Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome. Gastroenterology 2015, 149: 1446-1453. PMID: 26248088, PMCID: PMC4648287, DOI: 10.1053/j.gastro.2015.07.052.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenosine TriphosphatasesAdultAge FactorsAgedAged, 80 and overBlack or African AmericanColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA Repair EnzymesDNA-Binding ProteinsFamilyFemaleHumansIncidenceMaleMiddle AgedMismatch Repair Endonuclease PMS2MutationMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsRetrospective StudiesRisk FactorsSex FactorsConceptsColorectal cancerLynch syndromeCumulative riskRisk of CRCUS referral centersMMR gene mutationsMutation spectrumNongenetic risk factorsYears of ageMismatch repair genesMMR gene productsMutation-carrying familiesReferral centerRetrospective studyCRC riskRisk factorsFamily historyCancer riskHigh incidenceCRC conditionsSyndromeAbstractTextMMR genesAscertainment criteriaCancerEfficacy of Adjuvant 5-Fluorouracil Therapy for Patients with EMAST-Positive Stage II/III Colorectal Cancer
Hamaya Y, Guarinos C, Tseng-Rogenski SS, Iwaizumi M, Das R, Jover R, Castells A, Llor X, Andreu M, Carethers JM. Efficacy of Adjuvant 5-Fluorouracil Therapy for Patients with EMAST-Positive Stage II/III Colorectal Cancer. PLOS ONE 2015, 10: e0127591. PMID: 25996601, PMCID: PMC4440728, DOI: 10.1371/journal.pone.0127591.Peer-Reviewed Original ResearchConceptsColorectal cancerStage II/III CRC patientsStage II/III colorectal cancerKaplan-Meier survival curvesSelected Tetranucleotide RepeatsSporadic colorectal cancerElevated microsatellite alterationsEMAST statusEfficacy of adjuvantsCRC patientsImproved survivalPatient outcomesSomatic dysfunctionPatientsMicrosatellite alterationsSurvival curvesCancerChemotherapySurvival dataSubsequent cytotoxicityEMASTSurvivalMMR functionSame extentCytotoxicity
2014
Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer
Moreira L, Muñoz J, Cuatrecasas M, Quintanilla I, Leoz ML, Carballal S, Ocaña T, López‐Cerón M, Pellise M, Castellví‐Bel S, Jover R, Andreu M, Carracedo A, Xicola RM, Llor X, Boland CR, Goel A, Castells A, Balaguer F. Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer. Cancer 2014, 121: 1395-1404. PMID: 25557234, PMCID: PMC10508888, DOI: 10.1002/cncr.29190.Peer-Reviewed Original Research
2013
Genetic susceptibility variants associated with colorectal cancer prognosis
Abulí A, Lozano JJ, Rodríguez-Soler M, Jover R, Bessa X, Muñoz J, Esteban-Jurado C, Fernández-Rozadilla C, Carracedo A, Ruiz-Ponte C, Cubiella J, Balaguer F, Bujanda L, Reñé JM, Clofent J, Morillas JD, Nicolás-Pérez D, Xicola RM, Llor X, Piqué JM, Andreu M, Castells A, Castellví-Bel S. Genetic susceptibility variants associated with colorectal cancer prognosis. Carcinogenesis 2013, 34: 2286-2291. PMID: 23712746, DOI: 10.1093/carcin/bgt179.Peer-Reviewed Original ResearchConceptsOutcome overall survivalColorectal cancerGenetic susceptibility variantsG alleleColorectal cancer prognosisDisease-free survivalRecurrence-free intervalSuch prognostic factorsBetter clinical outcomesCancer-related deathBetter OSOverall survivalCRC patientsPrognostic factorsClinical outcomesPatient survivalShorter survivalCRC cohortPredictive biomarkersIntensive treatmentLifestyle habitsHigh riskSusceptibility variantsCancer prognosisSomatic genetic factorsRisk of Cancer in Cases of Suspected Lynch Syndrome Without Germline Mutation
Rodríguez–Soler M, Pérez–Carbonell L, Guarinos C, Zapater P, Castillejo A, Barberá VM, Juárez M, Bessa X, Xicola RM, Clofent J, Bujanda L, Balaguer F, Reñé J, de–Castro L, Marín–Gabriel J, Lanas A, Cubiella J, Nicolás–Pérez D, Brea–Fernández A, Castellví–Bel S, Alenda C, Ruiz–Ponte C, Carracedo A, Castells A, Andreu M, Llor X, Soto JL, Payá A, Jover R. Risk of Cancer in Cases of Suspected Lynch Syndrome Without Germline Mutation. Gastroenterology 2013, 144: 926-932.e1. PMID: 23354017, DOI: 10.1053/j.gastro.2013.01.044.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAgedAged, 80 and overColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA RepairDNA, NeoplasmFemaleGerm-Line MutationHumansImmunohistochemistryIncidenceMaleMicrosatellite InstabilityMiddle AgedMutL Protein Homolog 1Nuclear ProteinsPopulation SurveillanceRisk FactorsSpainConceptsLynch-like syndromeSex-adjusted standardized incidence ratiosFamilies of patientsRisk of cancerIncidence of CRCLynch syndromePathogenic germline mutationsMicrosatellite instabilityGermline mutationsSporadic CRCStandardized incidence ratiosLoss of PMS2Population-based cohortMLH1 promoter hypermethylationLoss of MLH1Loss of MSH2Clinical characteristicsConsecutive patientsIncidence ratiosMSH6 expressionImmunohistochemical analysisPatientsMLH1 promoterSyndromeSurveillance strategies
2012
BMP2 / BMP4 colorectal cancer susceptibility loci in northern and southern European populations
Fernandez-Rozadilla C, Palles C, Carvajal-Carmona L, Peterlongo P, Nici C, Veneroni S, Pinheiro M, Teixeira MR, Moreno V, Lamas MJ, Baiget M, Lopez-Fernandez L, Gonzalez D, Brea-Fernandez A, Clofent J, Bujanda L, Bessa X, Andreu M, Xicola R, Llor X, Jover R, Consortium T, Castells A, Castellvi-Bel S, Carracedo A, Tomlinson I, Ruiz-Ponte C. BMP2 / BMP4 colorectal cancer susceptibility loci in northern and southern European populations. Carcinogenesis 2012, 34: 314-318. PMID: 23161572, DOI: 10.1093/carcin/bgs357.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedBone Morphogenetic Protein 2Bone Morphogenetic Protein 4Case-Control StudiesColorectal NeoplasmsEuropeFemaleFollow-Up StudiesGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMicrosatellite RepeatsMiddle AgedNeoplasm StagingPolymorphism, Single NucleotidePrognosisProspective StudiesRisk FactorsConceptsSingle nucleotide polymorphismsMinor allele frequencyCancer susceptibility lociColorectal cancer susceptibility lociSouthern European populationsBone morphogenetic protein (BMP) signalingSusceptibility lociGenome-wide association studiesEuropean populationsMorphogenetic protein signalingSet of populationsDifferential taggingProtein signalingAssociation signalsSouthern European cohortsAssociation studiesDisequilibrium patternsFunctional variantsCausative variantsFurther study designsNucleotide polymorphismsAllele frequenciesLack of replicationLociComplex consequencesA High Degree of LINE-1 Hypomethylation Is a Unique Feature of Early-Onset Colorectal Cancer
Antelo M, Balaguer F, Shia J, Shen Y, Hur K, Moreira L, Cuatrecasas M, Bujanda L, Giraldez MD, Takahashi M, Cabanne A, Barugel ME, Arnold M, Roca EL, Andreu M, Castellvi-Bel S, Llor X, Jover R, Castells A, Boland CR, Goel A. A High Degree of LINE-1 Hypomethylation Is a Unique Feature of Early-Onset Colorectal Cancer. PLOS ONE 2012, 7: e45357. PMID: 23049789, PMCID: PMC3458035, DOI: 10.1371/journal.pone.0045357.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenomaAdultAge of OnsetArgentinaCase-Control StudiesColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA GlycosylasesDNA MethylationDNA-Binding ProteinsFemaleGene ExpressionGerm-Line MutationHumansLong Interspersed Nucleotide ElementsMaleMicrosatellite InstabilityMiddle AgedMutL Protein Homolog 1MutS Homolog 3 ProteinNuclear ProteinsProto-Oncogene Proteins B-rafSpainSurvival AnalysisUnited StatesConceptsEarly-onset colorectal cancerColorectal cancerLINE-1 methylationLINE-1 hypomethylationLynch syndrome colorectal cancersMismatch repair protein expressionSomatic BRAF V600E mutationNormal colonic mucosa samplesBetter overall survivalCancer-related mortalityMean LINE-1 methylation levelGermline MUTYH mutationsSporadic colorectal cancerRepair protein expressionColonic mucosa samplesMicrosatellite instability statusDistinct molecular subtypesBRAF V600E mutationLINE-1 methylation levelsLower LINE-1 methylationOverall survivalCRC tissuesMethylation statusPoor prognosisLynch syndromePharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration
Fernandez-Rozadilla C, Cazier JB, Moreno V, Crous-Bou M, Guinó E, Durán G, Lamas MJ, López R, Candamio S, Gallardo E, Paré L, Baiget M, Páez D, López-Fernández LA, Cortejoso L, García MI, Bujanda L, González D, Gonzalo V, Rodrigo L, Reñé JM, Jover R, Brea-Fernández A, Andreu M, Bessa X, Llor X, Xicola R, Palles C, Tomlinson I, Castellví-Bel S, Castells A, Ruiz-Ponte C, Carracedo A. Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration. The Pharmacogenomics Journal 2012, 13: 209-217. PMID: 22310351, DOI: 10.1038/tpj.2012.2.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overAntineoplastic Combined Chemotherapy ProtocolsBiomarkers, PharmacologicalClinical Trials, Phase II as TopicColorectal NeoplasmsDrug-Related Side Effects and Adverse ReactionsFemaleFluorouracilGenome-Wide Association StudyGenotyping TechniquesHumansLeucovorinMaleMiddle AgedOrganoplatinum CompoundsPharmacogeneticsPolymorphism, Single NucleotideTreatment OutcomeConceptsAdverse drug reactionsColorectal cancer patientsEvidence of associationFOLFOX administrationCRC patientsColorectal cancerCancer patientsDrug reactionsDrug AdministrationWide association studyPatientsVariable outcomesInter-individual variationAdministrationAssociation studiesGenome-wide scaleFirst studyWide screeningValidation setFOLFOXOxaliplatinGenetic basisCancer
2011
When Should We Suspect Hereditary Colorectal Cancer Syndrome?
Llor X. When Should We Suspect Hereditary Colorectal Cancer Syndrome? Clinical Gastroenterology And Hepatology 2011, 10: 363-367. PMID: 22178459, DOI: 10.1016/j.cgh.2011.12.022.Commentaries, Editorials and LettersComparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer
Pérez-Carbonell L, Ruiz-Ponte C, Guarinos C, Alenda C, Payá A, Brea A, Egoavil CM, Castillejo A, Barberá VM, Bessa X, Xicola RM, Rodríguez-Soler M, Sánchez-Fortún C, Acame N, Castellví-Bel S, Piñol V, Balaguer F, Bujanda L, De-Castro ML, Llor X, Andreu M, Carracedo A, Soto JL, Castells A, Jover R. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. Gut 2011, 61: 865. PMID: 21868491, DOI: 10.1136/gutjnl-2011-300041.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAgedAged, 80 and overColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA MethylationDNA Mismatch RepairFemaleGenetic Carrier ScreeningGenetic TestingGerm-Line MutationHumansImmunohistochemistryMaleMicrosatellite InstabilityMiddle AgedMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsPractice Guidelines as TopicConceptsColorectal cancerLynch syndromeBethesda criteriaGenetic testingBethesda guidelinesMSH6 expressionLarge population-based cohortSelection of patientsPopulation-based cohortMMR proteinsMMR gene mutationsMMR protein expressionLoss of MLH1Microsatellite instability analysisGermline MLH1Routine molecular screeningLoss of expressionMutation carriersMSH2 stainingPatientsMSH2 mutationsLarge seriesMSI tumorsPMS2 expressionTumor tissueCancer Risk Assessment in Lynch Syndrome: Does the Gene Matter?
Xicola RM, Llor X. Cancer Risk Assessment in Lynch Syndrome: Does the Gene Matter? JAMA 2011, 305: 2351-2352. PMID: 21642691, DOI: 10.1001/jama.2011.771.Commentaries, Editorials and Letters