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
2016
Building a Cancer Genetics and Prevention Program
Llor X. Building a Cancer Genetics and Prevention Program. Clinical Gastroenterology And Hepatology 2016, 14: 1516-1520. PMID: 27531499, DOI: 10.1016/j.cgh.2016.06.012.Peer-Reviewed Original Research
2012
Defectos de la metilación del ADN en el cáncer colorrectal esporádico y hereditario
Xicola RM, Llor X. Defectos de la metilación del ADN en el cáncer colorrectal esporádico y hereditario. Gastroenterología Y Hepatología 2012, 35: 480-487. PMID: 22459641, DOI: 10.1016/j.gastrohep.2012.01.010.BooksMeSH KeywordsAdenocarcinomaAdenomaAnticarcinogenic AgentsAntineoplastic AgentsBiomarkersCell Transformation, NeoplasticClonal EvolutionColorectal NeoplasmsCpG IslandsDietDNA MethylationDNA, NeoplasmDrug DesignFolic AcidGenes, NeoplasmGenes, Tumor SuppressorGenome-Wide Association StudyHumansIncidenceMolecular Targeted TherapyMutationNeoplastic Syndromes, HereditaryPolyphenolsSeleniumConceptsMethylation defectsFundamental epigenetic mechanismCrucial cell functionsExpression of genesEpigenetic mechanismsDNA methylationGene analysisMethylationMethylation processCancer developmentCell functionDevelopment of chemotherapyEffect of dietGenesColorectal carcinogenesisAntineoplastic activity