2024
899 YALE CRITERIA FOR GENETIC TESTING IN CASES OF SUSPECTED HEREDITARY DIFFUSE GASTRIC CANCER (HDGC) ARE MORE SENSITIVE THAN IGCLC AND ERN GENTURIS CRITERIA IN A LARGE AMERICAN COHORT
Lerner B, Giner-Calabuig M, Carraway C, Richardson M, Krahn K, Susswein L, Heald B, Karam R, Xicola R, Llor X. 899 YALE CRITERIA FOR GENETIC TESTING IN CASES OF SUSPECTED HEREDITARY DIFFUSE GASTRIC CANCER (HDGC) ARE MORE SENSITIVE THAN IGCLC AND ERN GENTURIS CRITERIA IN A LARGE AMERICAN COHORT. Gastroenterology 2024, 166: s-215. DOI: 10.1016/s0016-5085(24)00984-3.Peer-Reviewed Original Research
2023
Sa1001 CHANGES IN USAGE OF STOOL-BASED AND NON-STOOL-BASED COLORECTAL CANCER SCREENING MODALITIES BEFORE AND DURING THE COVID-19 PANDEMIC IN THE UNITED STATES.
Soleymanjahi S, Hong Y, Lee J, Mahmoudi-Rouhani R, Hughes M, Llor X. Sa1001 CHANGES IN USAGE OF STOOL-BASED AND NON-STOOL-BASED COLORECTAL CANCER SCREENING MODALITIES BEFORE AND DURING THE COVID-19 PANDEMIC IN THE UNITED STATES. Gastroenterology 2023, 164: s-268. DOI: 10.1016/s0016-5085(23)01605-0.Peer-Reviewed Original Research33 THE IMPLEMENTATION OF AN EMR-BASED AUTOMATED SYSTEM FOR IDENTIFICATION OF PATIENTS SUSPICIOUS FOR LYNCH SYNDROME HAS A DISPROPORTIONALLY POSITIVE IMPACT IN THE IDENTIFICATION OF DISADVANTAGED PATIENTS
Soleymanjahi S, Singh V, Liu J, Brown Q, Brierley K, Healy C, Xicola R, Kashyap N, Llor X. 33 THE IMPLEMENTATION OF AN EMR-BASED AUTOMATED SYSTEM FOR IDENTIFICATION OF PATIENTS SUSPICIOUS FOR LYNCH SYNDROME HAS A DISPROPORTIONALLY POSITIVE IMPACT IN THE IDENTIFICATION OF DISADVANTAGED PATIENTS. Gastroenterology 2023, 164: s-11. DOI: 10.1016/s0016-5085(23)00980-0.Peer-Reviewed Original Research30 IMPACT OF THE COVID-19 PANDEMIC ON RACIAL AND SOCIOECONOMIC DISPARITIES ON RECEIVING COLORECTAL CANCER SCREENING RECOMMENDATIONS IN THE UNITED STATES.
Soleymanjahi S, Hong Y, Lee J, Kvistad R, Hughes M, Llor X. 30 IMPACT OF THE COVID-19 PANDEMIC ON RACIAL AND SOCIOECONOMIC DISPARITIES ON RECEIVING COLORECTAL CANCER SCREENING RECOMMENDATIONS IN THE UNITED STATES. Gastroenterology 2023, 164: s-9-s-10. DOI: 10.1016/s0016-5085(23)00977-0.Peer-Reviewed Original ResearchMolecular and Sociodemographic Colorectal Cancer Disparities in Latinos Living in Puerto Rico
Perez-Mayoral J, Gonzalez-Pons M, Centeno-Girona H, Montes-Rodríguez I, Soto-Salgado M, Suárez B, Rodríguez N, Colón G, Sevilla J, Jorge D, Llor X, Xicola R, Toro D, Tous-López L, Torres-Torres M, Reyes J, López-Acevedo N, Goel A, Rodríguez-Quilichini S, Cruz-Correa M. Molecular and Sociodemographic Colorectal Cancer Disparities in Latinos Living in Puerto Rico. Genes 2023, 14: 894. PMID: 37107652, PMCID: PMC10138302, DOI: 10.3390/genes14040894.Peer-Reviewed Original ResearchConceptsEarly-onset colorectal cancerColorectal cancerCpG island methylator phenotypeMicrosatellite instabilityExact testColorectal cancer disparitiesSporadic colorectal cancerFisher's exact testMolecular carcinogenic pathwaysClinicopathologic featuresClinicopathological characteristicsCancer deathCancer disparitiesColorectal tumorsCarcinogenic pathwaysHispanic menMutation statusTumorsAdditional studiesMethylator phenotypeHispanic subpopulationsChi-squaredAmerindian admixtureMolecular pathwaysMolecular markers
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 ResearchSimplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants
Lerner BA, Xicola RM, Rodriguez NJ, Karam R, Llor X. Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants. Journal Of Medical Genetics 2022, 60: 36-40. PMID: 35078942, PMCID: PMC9661780, DOI: 10.1136/jmedgenet-2021-108169.Peer-Reviewed Original ResearchConceptsInternational Gastric Cancer Linkage ConsortiumHereditary diffuse gastric cancerPercentage of subjectsGastric cancerMutation carriersPathogenic variantsMultigene panel testingPathogenic CDH1 variantsAutosomal dominant syndromeDiffuse gastric cancerClinical criteriaConsecutive casesMedical historyPathology reportsCDH1 variantsPanel testingGenetic testingCancer pathology reportsCancerPathology
2021
Molecular drivers of tumor progression in microsatellite stable APC mutation-negative colorectal cancers
Grant A, Xicola RM, Nguyen V, Lim J, Thorne C, Salhia B, Llor X, Ellis N, Padi M. Molecular drivers of tumor progression in microsatellite stable APC mutation-negative colorectal cancers. Scientific Reports 2021, 11: 23507. PMID: 34873211, PMCID: PMC8648784, DOI: 10.1038/s41598-021-02806-x.Peer-Reviewed Original ResearchMeSH KeywordsAdenomatous Polyposis ColiAdenomatous Polyposis Coli ProteinColorectal NeoplasmsDisease ProgressionDNA Copy Number VariationsDNA MethylationGenes, APCHumansMicrosatellite InstabilityMicrosatellite RepeatsMutationNeoplastic ProcessesPhenotypePromoter Regions, GeneticWnt Signaling PathwayConceptsAdenomatous polyposis coliMitochondrial activationDNA methylation profilesTumor suppressor gene adenomatous polyposis coliRNA expressionExpression of Axin2Cancer Genome AtlasIntracellular WntMethylation profilesAberrant regulationGene fusionsGenetic inactivationExtracellular WntNumber variationsGenome AtlasPolyposis coliSomatic mutationsAPC mutationsMutationsMolecular driversMutations of BRAFWntRSPO3Tumor progressionExpressionColorectal Cancer Risk in Lynch Syndrome: Of Genes and More
Mezzacappa C, Llor X. Colorectal Cancer Risk in Lynch Syndrome: Of Genes and More. Gastroenterology 2021, 162: 1358-1360. PMID: 34863785, DOI: 10.1053/j.gastro.2021.11.032.Peer-Reviewed Original ResearchxDEEP-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 ResearchNCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2021.
Weiss JM, Gupta S, Burke CA, Axell L, Chen LM, Chung DC, Clayback KM, Dallas S, Felder S, Gbolahan O, Giardiello FM, Grady W, Hall MJ, Hampel H, Hodan R, Idos G, Kanth P, Katona B, Lamps L, Llor X, Lynch PM, Markowitz AJ, Pirzadeh-Miller S, Samadder NJ, Shibata D, Swanson BJ, Szymaniak BM, Wiesner GL, Wolf A, Yurgelun MB, Zakhour M, Darlow SD, Dwyer MA, Campbell M. NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2021. Journal Of The National Comprehensive Cancer Network 2021, 19: 1122-1132. PMID: 34666312, DOI: 10.1164/jnccn.2021.0048.Peer-Reviewed Original ResearchConceptsGenetic/Familial High-Risk AssessmentFamilial adenomatous polyposisHigh-risk assessmentNCCN guidelinesHereditary cancer risk assessmentNCCN Guidelines InsightsManagement of patientsColorectal cancer syndromeFamilial adenomatous polyposis syndromeAdenomatous polyposis syndromeCancer risk assessmentPathogenic genetic variantsDuodenal neoplasiaCancer surveillancePolyposis syndromeHereditary syndromesIdentification of individualsCancer syndromesAdenomatous polyposisClinical expertiseSyndromeColorectalRisk reductionGenetic variantsNew scientific dataAnalysis 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 variantsDickkopf-2 regulates the stem cell marker LGR5 in colorectal cancer via HNF4α1
Shin JH, Jeong J, Choi J, Lim J, Dinesh RK, Braverman J, Hong JY, Maher SE, Vesely M, Kim W, Koo JH, Tang W, Wu D, Blackburn HN, Xicola RM, Llor X, Yilmaz O, Choi JM, Bothwell ALM. Dickkopf-2 regulates the stem cell marker LGR5 in colorectal cancer via HNF4α1. IScience 2021, 24: 102411. PMID: 33997693, PMCID: PMC8099562, DOI: 10.1016/j.isci.2021.102411.Peer-Reviewed Original ResearchColorectal cancerDickkopf-2Colitis-associated cancerColorectal cancer stemnessStem cell marker Lgr5Colonic epithelial cellsAggressive progressionCancer stemnessLGR5 expressionColonic organoidsCancerEpithelial cellsCell marker genesStem cell marker genesSignificant increaseGenetic depletionWnt ligandsStem cellsProgressionLgr5StemnessCellsExpressionSequential mutationsMutationsPhenotypic 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
2020
Genetic Gastric Cancer Risk Syndromes
Lerner BA, Llor X. Genetic Gastric Cancer Risk Syndromes. Current Treatment Options In Gastroenterology 2020, 18: 604-615. PMID: 33776403, PMCID: PMC7992355, DOI: 10.1007/s11938-020-00312-z.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsHereditary gastric cancer syndromesHereditary diffuse gastric cancerGastric cancer syndromeGastric cancerHamartomatous polyposis syndromesPolyposis syndromeLynch syndromeRisk syndromeCancer syndromesPathogenic variantsMultigene panel testingAdenomatous polyposis syndromeDiffuse gastric cancerCumulative incidenceProximal polyposisRecent FindingsPatientsCancer deathClinical criteriaGastric adenocarcinomaLeading causeProphylactic gastrectomyMutation statusPanel testingSyndromeCancer penetranceNCCN Guidelines Insights: Colorectal Cancer Screening, Version 2.2020.
Provenzale D, Ness RM, Llor X, Weiss JM, Abbadessa B, Cooper G, Early DS, Friedman M, Giardiello FM, Glaser K, Gurudu S, Halverson AL, Issaka R, Jain R, Kanth P, Kidambi T, Lazenby AJ, Maguire L, Markowitz AJ, May FP, Mayer RJ, Mehta S, Patel S, Peter S, Stanich P, Terdiman J, Keller J, Dwyer MA, Ogba N. NCCN Guidelines Insights: Colorectal Cancer Screening, Version 2.2020. Journal Of The National Comprehensive Cancer Network 2020, 18: 1312-1320. PMID: 33022639, PMCID: PMC8311627, DOI: 10.6004/jnccn.2020.0048.Peer-Reviewed Original ResearchConceptsColorectal cancer screeningNCCN guidelinesCancer screeningAverage-risk individualsNCCN Guidelines InsightsLow-risk adenomasCRC preventionSporadic CRCScreening scheduleRisk individualsGenetic syndromesPanel recommendationsPatientsRecent updatesCRCScreeningGuidelinesAdenomasSyndromePhysiciansPreventionAGA White Paper: Roadmap for the Future of Colorectal Cancer Screening in the United States
Melson JE, Imperiale TF, Itzkowitz SH, Llor X, Kochman ML, Grady WM, Schoen RE, Burke CA, Shaukat A, Rabeneck L, Ladabaum U, Bresalier R, Spiegel B, Yee J, Wang T, Lieberman D, Komanduri S, Muthusamy VR, Dey N. AGA White Paper: Roadmap for the Future of Colorectal Cancer Screening in the United States. Clinical Gastroenterology And Hepatology 2020, 18: 2667-2678.e2. PMID: 32634626, DOI: 10.1016/j.cgh.2020.06.053.Peer-Reviewed Original ResearchConceptsColorectal cancer screeningCancer screeningBetter risk-stratify patientsMultiple screening modalitiesRisk-stratify patientsNoninvasive screening testAmerican Gastroenterological Association's CenterPersonal risk assessmentCRC morbidityCRC screeningCRC outcomesScreening modalityConsensus conferenceScreening testAssociation centerOutcomesScreeningTesting paradigmSurveillanceMorbidityPatientsRisk assessmentMortalityUptakeTu1212 RELEVANT HETEROGENEITY IN MISMATCH REPAIR DEFICIENT TUMORS
Giner-Calabuig M, Ukaegbu C, Syngal S, Stoffel E, Jover R, Llor X, Xicola R. Tu1212 RELEVANT HETEROGENEITY IN MISMATCH REPAIR DEFICIENT TUMORS. Gastroenterology 2020, 158: s-1020. DOI: 10.1016/s0016-5085(20)33223-6.Peer-Reviewed Original Research1 IMPROVING LYNCH SYNDROME IDENTIFICATION THROUGH THE IMPLEMENTATION OF ENHANCED TUMOR TESTING AND A COMPREHENSIVE SYSTEMS APPROACH
Singh V, Ganzak A, Gershkovich P, Gibson J, Llor X. 1 IMPROVING LYNCH SYNDROME IDENTIFICATION THROUGH THE IMPLEMENTATION OF ENHANCED TUMOR TESTING AND A COMPREHENSIVE SYSTEMS APPROACH. Gastroenterology 2020, 158: s-1. DOI: 10.1016/s0016-5085(20)30682-x.Peer-Reviewed Original Research