2021
Phenotypic 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
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 SurveyCancerClinical 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 variants
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
2010
Susceptibility Genetic Variants Associated With Colorectal Cancer Risk Correlate With Cancer Phenotype
Abulí A, Bessa X, González JR, Ruiz–Ponte C, Cáceres A, Muñoz J, Gonzalo V, Balaguer F, Fernández–Rozadilla C, González D, de Castro L, Clofent J, Bujanda L, Cubiella J, Reñé J, Morillas JD, Lanas Á, Rigau J, García A, Latorre M, Saló J, Bañares F, Argüello L, Peña E, Vilella À, Riestra S, Carreño R, Paya A, Alenda C, Xicola RM, Doyle BJ, Jover R, Llor X, Carracedo A, Castells A, Castellví–Bel S, Andreu M, Association G. Susceptibility Genetic Variants Associated With Colorectal Cancer Risk Correlate With Cancer Phenotype. Gastroenterology 2010, 139: 788-796.e6. PMID: 20638935, DOI: 10.1053/j.gastro.2010.05.072.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overCell DifferentiationChromosomes, Human, Pair 16Chromosomes, Human, Pair 8Colorectal NeoplasmsFemaleGene Expression Regulation, NeoplasticGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseHumansLogistic ModelsMaleMiddle AgedNeoplasm StagingOdds RatioPedigreePhenotypePolymorphism, Single NucleotideProspective StudiesReproducibility of ResultsRisk AssessmentRisk FactorsSpainConceptsCRC phenotypeColorectal cancer riskPopulation-based cohortAdvanced stage tumorsCancer phenotypeGenetic variantsCRC managementSpanish cohortColorectal adenomasCancer riskFamilial historyG allelePatientsC alleleGenetic Variants AssociatedPrevention programsSurveillance strategiesAbstractTextLogistic regressionRisk correlatesCRCAIMSReplication setCohortVariants Associated
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