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
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 criteriaCancer
2011
A two-phase case–control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22
Abulí A, Fernández-Rozadilla C, Giráldez MD, Muñoz J, Gonzalo V, Bessa X, Bujanda L, Reñé JM, Lanas A, García AM, Saló J, Argüello L, Vilella À, Carreño R, Jover R, Xicola RM, Llor X, Carvajal-Carmona L, Tomlinson IP, Kerr DJ, Houlston RS, Piqué JM, Carracedo A, Castells A, Andreu M, Ruiz-Ponte C, Castellví-Bel S, for the Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. A two-phase case–control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22. British Journal Of Cancer 2011, 105: 870-875. PMID: 21811255, PMCID: PMC3171011, DOI: 10.1038/bjc.2011.296.Peer-Reviewed Original ResearchMeSH KeywordsAgedAntigens, CDCarrier ProteinsCase-Control StudiesChromosomes, Human, Pair 3Chromosomes, Human, Pair 9Colorectal NeoplasmsDNA-Binding ProteinsGenetic Association StudiesGenetic Predisposition to DiseaseGPI-Linked ProteinsHumansMaleNuclear ProteinsPolymorphism, Single NucleotideSemaphorinsConceptsCRC riskCRC casesColorectal cancerSingle nucleotide polymorphismsCancer-related deathCase-control studyLarge CRC cohortsGenetic variantsLow-penetrance genetic variantsCRC cohortCRC susceptibilityCRC familiesSecond causeGenetic susceptibilityGenetic riskGenetic linkage studiesAdditional associationsCandidate genesRiskPhase 2Plausible candidate genesFurther validationPhase 1Two-phase case-control studyLinkage studies
2010
Colorectal Cancer Susceptibility Quantitative Trait Loci in Mice as a Novel Approach to Detect Low-Penetrance Variants in Humans: A Two-Stage Case-Control Study
Fernández-Rozadilla C, Tarrío R, Clofent J, de Castro L, Brea-Fernández A, Bessa X, Abulí A, Andreu M, Jover R, Xicola R, Llor X, Castells A, Castellví-Bel S, Carracedo A, Ruiz-Ponte C, Association F. Colorectal Cancer Susceptibility Quantitative Trait Loci in Mice as a Novel Approach to Detect Low-Penetrance Variants in Humans: A Two-Stage Case-Control Study. Cancer Epidemiology Biomarkers & Prevention 2010, 19: 619-623. PMID: 20142256, DOI: 10.1158/1055-9965.epi-09-1175.Peer-Reviewed Original ResearchConceptsQuantitative trait lociLow-penetrance variantsTrait lociSingle nucleotide polymorphismsSusceptibility quantitative trait lociMouse quantitative trait lociHuman candidate genesSyntenic regionsGene selection strategyGenetic basisCyr61 geneCandidate genesPenetrant mutationsGenesLociPolygenic modelCancer susceptibilityEarly CRC detectionColorectal cancer susceptibilityGenetic modelingCRC riskPolymorphismColorectal cancerVariantsCRC detection
2009
Association of MUTYH and MSH6 germline mutations in colorectal cancer patients
Giráldez MD, Balaguer F, Caldés T, Sanchez-de-Abajo A, Gómez-Fernández N, Ruiz-Ponte C, Muñoz J, Garre P, Gonzalo V, Moreira L, Ocaña T, Clofent J, Carracedo A, Andreu M, Jover R, Llor X, Castells A, Castellví-Bel S, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Association of MUTYH and MSH6 germline mutations in colorectal cancer patients. Familial Cancer 2009, 8: 525. PMID: 19685280, DOI: 10.1007/s10689-009-9282-4.Peer-Reviewed Original ResearchConceptsMonoallelic MUTYH mutationsCRC patientsMSH6 mutationsMUTYH mutationsCRC riskGermline mutationsMUTYH mutation carriersColorectal cancer patientsColorectal cancer riskMSH6 germline mutationsCancer patientsHealthy carriersMutation carriersCancer riskPatientsGroup IIGroup IMUTYHRiskMissense mutationsMSH6Repair processNonsense mutationMutationsDNA repair processes
2007
Identification of MYH Mutation Carriers in Colorectal Cancer: A Multicenter, Case-Control, Population-Based Study
Balaguer F, Castellví–Bel S, Castells A, Andreu M, Muñoz J, Gisbert JP, Llor X, Jover R, de Cid R, Gonzalo V, Bessa X, Xicola RM, Pons E, Alenda C, Payá A, Piqué JM, Association G. Identification of MYH Mutation Carriers in Colorectal Cancer: A Multicenter, Case-Control, Population-Based Study. Clinical Gastroenterology And Hepatology 2007, 5: 379-387. PMID: 17368238, DOI: 10.1016/j.cgh.2006.12.025.Peer-Reviewed Original ResearchMeSH KeywordsAdenomatous Polyposis ColiAge DistributionAgedAged, 80 and overBase Pair MismatchCase-Control StudiesColorectal NeoplasmsConfidence IntervalsDNA GlycosylasesDNA Mutational AnalysisFemaleGenes, APCGenetic Predisposition to DiseaseGerm-Line MutationHeterozygoteHumansIncidenceMaleMiddle AgedOdds RatioPrognosisProspective StudiesReference ValuesRisk AssessmentSex DistributionSpainSurvival RateConceptsColorectal cancerMYH mutationsCRC patientsClinical criteriaMutation carriersMonoallelic carriersGermline MYH mutationsPrevious case-control studyAdditional pathogenic variantsPopulation-based studyBiallelic MYH mutationsCase-control studySynchronous colorectal adenomasCRC riskControl subjectsColorectal adenomasPreventive strategiesCase controlPathogenic variantsSignificant associationAbstractTextBiallelic mutationsMonoallelic mutationsConformation polymorphism analysisSignificant risk