2022
Simplified 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
Exome 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 mutationsMutations
2020
Decreased copy‐neutral loss of heterozygosity in African American colorectal cancers
Augustus GJ, Xicola RM, Llor X, Ellis NA. Decreased copy‐neutral loss of heterozygosity in African American colorectal cancers. Genes Chromosomes And Cancer 2020, 59: 454-464. PMID: 32293075, PMCID: PMC8045478, DOI: 10.1002/gcc.22851.Peer-Reviewed Original Research
2019
Scoring colorectal cancer risk with an artificial neural network based on self-reportable personal health data
Nartowt BJ, Hart GR, Roffman DA, Llor X, Ali I, Muhammad W, Liang Y, Deng J. Scoring colorectal cancer risk with an artificial neural network based on self-reportable personal health data. PLOS ONE 2019, 14: e0221421. PMID: 31437221, PMCID: PMC6705772, DOI: 10.1371/journal.pone.0221421.Peer-Reviewed Original ResearchConceptsNational Health Interview SurveyUnited States Preventative Services Task ForceColorectal cancerPredictive valueDiagnosis of CRCColorectal cancer riskHealth Interview SurveyHigh-risk categoryNegative predictive valuePositive predictive valueMultivariable prediction modelHealth dataUSPSTF guidelinesRisk score methodCRC riskFamily historyCancer riskHigh riskAge 50Individual prognosisLower riskPersonal health dataClinical applicabilityInterview SurveyCancer
2018
TFAP2E Methylation and Expression Status Does Not Predict Response to 5-FU-based Chemotherapy in Colorectal Cancer
Murcia O, Jover R, Egoavil C, Perez-Carbonell L, Juárez M, Hernández-Illán E, Rojas E, Alenda C, Balaguer F, Andreu M, Llor X, Castells A, Boland CR, Goel A. TFAP2E Methylation and Expression Status Does Not Predict Response to 5-FU-based Chemotherapy in Colorectal Cancer. Clinical Cancer Research 2018, 24: 2820-2827. PMID: 29535127, PMCID: PMC7396148, DOI: 10.1158/1078-0432.ccr-17-2940.Peer-Reviewed Original ResearchConceptsColorectal cancerProtein expressionClinic-based trialsStage IV patientsAdvanced colorectal cancerDisease-free survivalColorectal cancer patientsPredictors of responseClin Cancer ResColorectal cancer samplesIV patientsMulticenter cohortMethylation statusPatient cohortCancer patientsIHC analysisIHC stainingPatientsStage IICancer ResChemotherapyCancerCancer samplesCohortHypermethylation status
2017
Correlations of Abdominal Fat and Colonic Sulfidogenic Bacteria in African Americans and Non‐Hispanic Whites with Newly Diagnosed Colorectal Cancer
Gomez‐Perez S, Yazici C, Wolf P, Braunschweig C, Xicola R, Llor X, Ellis N, Tussing‐Humphreys L, Mutlu E, Gaskins R. Correlations of Abdominal Fat and Colonic Sulfidogenic Bacteria in African Americans and Non‐Hispanic Whites with Newly Diagnosed Colorectal Cancer. The FASEB Journal 2017, 31 DOI: 10.1096/fasebj.31.1_supplement.138.7.Peer-Reviewed Original ResearchAbdominal fat distributionNon-Hispanic whitesNational Cancer InstituteColonic mucosaAbdominal fatWaist circumferenceColorectal cancerCancer InstitutePreoperative abdominal computed tomography scansAfrican AmericansAbdominal computed tomography scanIncident colorectal cancerComputed tomography scanGene targetsIncident CRCMean ageFat distributionTomography scanColonic tissueGut microbiotaAbundance of DesulfovibrioL3 vertebraMucosaSignificant correlationCancer
2016
A meta-analysis of MSI frequency and race in colorectal cancer
Ashktorab H, Ahuja S, Kannan L, Llor X, Ellis NA, Xicola RM, Laiyemo AO, Carethers JM, Brim H, Nouraie M. A meta-analysis of MSI frequency and race in colorectal cancer. Oncotarget 2016, 7: 34546-34557. PMID: 27120810, PMCID: PMC5085175, DOI: 10.18632/oncotarget.8945.Peer-Reviewed Original ResearchConceptsColorectal cancerMSI frequencyMicrosatellite instabilityAfrican AmericansAssociation of raceSub-group analysisMeta-regression analysisAvailable race dataClinical factorsTumor locationHigh riskMSI ratesDifferent literature databasesLiterature databasesRacial disparitiesCancerCaucasiansHispanicsDifferent studiesCaucasian samplesRandom effectsUnivariate effectsHigh frequencyRace data
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 extentCytotoxicitySu1997 Colorectal Cancer With Methylator Phenotype. Clinical Characterisitics, Prognosis and Response to Adjuvant Chemotherapy
Murcia O, Rodriguez-Soler M, Juarez-Quesada M, Guarinos C, Hernandez-Illan E, Andreu M, Castells A, Llor X, Carracedo A, Jover R. Su1997 Colorectal Cancer With Methylator Phenotype. Clinical Characterisitics, Prognosis and Response to Adjuvant Chemotherapy. Gastroenterology 2015, 148: s-570-s-571. DOI: 10.1016/s0016-5085(15)31926-0.Peer-Reviewed Original Research
2014
Excess of Proximal Microsatellite-Stable Colorectal Cancer in African Americans from a Multiethnic Study
Xicola RM, Gagnon M, Clark JR, Carroll T, Gao W, Fernandez C, Mijic D, Rawson JB, Janoski A, Pusatcioglu CK, Rajaram P, Gluskin AB, Regan M, Chaudhry V, Abcarian H, Blumetti J, Cintron J, Melson J, Xie H, Guzman G, Emmadi R, Alagiozian-Angelova V, Kupfer SS, Braunschweig C, Ellis NA, Llor X. Excess of Proximal Microsatellite-Stable Colorectal Cancer in African Americans from a Multiethnic Study. Clinical Cancer Research 2014, 20: 4962-4970. PMID: 25013126, PMCID: PMC4167473, DOI: 10.1158/1078-0432.ccr-14-0353.Peer-Reviewed Original ResearchConceptsProximal colorectal cancerColorectal cancerMicrosatellite instabilityLymphocytic infiltrateKRAS mutationsAfrican AmericansMicrosatellite stable colorectal cancerDistal colorectal cancerFisher's exact testMicrosatellite stable tumorsMann-Whitney U testYoung African AmericansMedian ageAA patientsHigher BMICancer disparitiesChicago HospitalsStable tumorsAge 50High incidenceMultiethnic StudyExact testYounger ageCancerOlder ageIGFBP3 Methylation Is a Novel Diagnostic and Predictive Biomarker in Colorectal Cancer
Perez-Carbonell L, Balaguer F, Toiyama Y, Egoavil C, Rojas E, Guarinos C, Andreu M, Llor X, Castells A, Jover R, Boland CR, Goel A. IGFBP3 Methylation Is a Novel Diagnostic and Predictive Biomarker in Colorectal Cancer. PLOS ONE 2014, 9: e104285. PMID: 25127039, PMCID: PMC4134211, DOI: 10.1371/journal.pone.0104285.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAntineoplastic Combined Chemotherapy ProtocolsBiomarkers, TumorColorectal NeoplasmsCpG IslandsDNA MethylationFemaleHumansInsulin-Like Growth Factor Binding Protein 3Intestinal MucosaMaleMicrosatellite InstabilityMicrosatellite RepeatsMiddle AgedMutationNeoplasm StagingPrognosisPromoter Regions, GeneticProto-Oncogene Proteins B-rafTreatment OutcomeConceptsCRC patientsColorectal cancerPredictive biomarkersStage IICRC cohortPoor disease-free survivalDisease-free survivalIndependent risk factorPopulation-based cohortPotential clinical significancePromising diagnostic biomarkerFree survivalRisk factorsColonic tumorsCRC-specific genesClinical significanceNormal mucosaCancer-related genesPatientsDiagnostic biomarkersTumor tissueBiomarkersCohortCancerHuman cancersMo1153 Association of a Variant in FADS2 the Gene Encoding the Polyunsaturated Fatty Acid Metabolizing Enzyme FADS2 With Colorectal Cancer in African Americans
Ravella S, Xicola R, Pibiri F, Carroll T, Sandler R, Kupfer S, Ellis N, Llor X. Mo1153 Association of a Variant in FADS2 the Gene Encoding the Polyunsaturated Fatty Acid Metabolizing Enzyme FADS2 With Colorectal Cancer in African Americans. Gastroenterology 2014, 146: s-571. DOI: 10.1016/s0016-5085(14)62069-2.Peer-Reviewed Original ResearchSa1897 Novel Evidence for Interleukin-8 (IL-8) As a Predictive Biomarker of Response to 5fluorouracil Based Chemotherapy in Colorectal Cancer
Pérez-Carbonell L, Egoavil C, Rojas E, Alenda C, Rodriguez-Soler M, Guarinos C, Juarez-Quesada M, Andreu M, Llor X, Castells A, Jover R, Boland C, Goel A. Sa1897 Novel Evidence for Interleukin-8 (IL-8) As a Predictive Biomarker of Response to 5fluorouracil Based Chemotherapy in Colorectal Cancer. Gastroenterology 2014, 146: s-323. DOI: 10.1016/s0016-5085(14)61166-5.Peer-Reviewed Original Research675 Unveiling of DNA Repair Gene Alterations in Non-Lynch Hereditary Colorectal Cancer Through Exome Sequencing
Marwaha P, Xicola R, Kim Y, Snyder C, Carroll T, Syngal S, Buxbaum S, Zhang M, Want S, Lynch H, Bessa X, Andreu M, Jover R, Carracedo A, Castells A, Caldes T, Ellis N, Llor X. 675 Unveiling of DNA Repair Gene Alterations in Non-Lynch Hereditary Colorectal Cancer Through Exome Sequencing. Gastroenterology 2014, 146: s-119. DOI: 10.1016/s0016-5085(14)60429-7.Peer-Reviewed Original Research
2013
470 TFAP2E Methylation and Expression Status Do Not Serve As Predictors of Response to 5-FU Based Chemotherapy in Colorectal Cancer
Pérez-Carbonell L, Egoavil C, Toiyama Y, Guarinos C, Rojas E, Alenda C, Balaguer F, Hur K, Andreu M, Llor X, Castells A, Jover R, Boland C, Goel A. 470 TFAP2E Methylation and Expression Status Do Not Serve As Predictors of Response to 5-FU Based Chemotherapy in Colorectal Cancer. Gastroenterology 2013, 144: s-84-s-85. DOI: 10.1016/s0016-5085(13)60314-5.Peer-Reviewed Original ResearchSu1087 Clinicopathological Characterization and Nutritional Assessment of Hispanics With Sporadic Microsatellite Unstable Colorectal Cancers
Diaz-Algorri Y, Xicola R, Llor X, Tucker K, Cruz-Correa M. Su1087 Clinicopathological Characterization and Nutritional Assessment of Hispanics With Sporadic Microsatellite Unstable Colorectal Cancers. Gastroenterology 2013, 144: s-395. DOI: 10.1016/s0016-5085(13)61454-7.Peer-Reviewed Original Research
2012
Sa1774 Prevalence of MLH1 Constitutional Epimutations as a Cause of Lynch Syndrome in Unselected Consecutive Cases of Colorectal Cancer
Rodriguez-Soler M, Pérez-Carbonell L, Guarinos C, Castillejo A, Egoavil C, Barberà V, Martinez-Dueńas E, Castillejo M, Martinez-Canto A, Sanchez-Heras A, Ruiz-Ponte C, Brea A, Alenda C, Paya A, Sanchez-Fortun C, Juarez-Quesada M, Bujanda L, Clofent J, Llor X, Andreu M, Castells A, Carracedo A, Soto J, Jover R. Sa1774 Prevalence of MLH1 Constitutional Epimutations as a Cause of Lynch Syndrome in Unselected Consecutive Cases of Colorectal Cancer. Gastroenterology 2012, 142: s-322. DOI: 10.1016/s0016-5085(12)61211-6.Peer-Reviewed Original ResearchPharmacogenomics 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