2021
NCCN 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 data
2019
Implication of DNA repair genes in Lynch-like syndrome
Xicola RM, Clark JR, Carroll T, Alvikas J, Marwaha P, Regan MR, Lopez-Giraldez F, Choi J, Emmadi R, Alagiozian-Angelova V, Kupfer SS, Ellis NA, Llor X. Implication of DNA repair genes in Lynch-like syndrome. Familial Cancer 2019, 18: 331-342. PMID: 30989425, PMCID: PMC6561810, DOI: 10.1007/s10689-019-00128-6.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overColorectal Neoplasms, Hereditary NonpolyposisDNA MethylationDNA Mismatch RepairDNA-Binding ProteinsFemaleGerm-Line MutationHeterozygoteHumansMaleMicrosatellite InstabilityMiddle AgedMismatch Repair Endonuclease PMS2MutL Protein Homolog 1MutS Homolog 2 ProteinSequence Analysis, DNAConceptsLLS patientsDistinct mutational signaturesGenome integrityLynch syndromeMutational signaturesMicrosatellite instabilityGermline mutationsColorectal cancerSequence analysisRepair genesSomatic MMR gene mutationsLS casesConsecutive CRC patientsMutational profileSomatic mutationsLynch-like syndromeL mutationMMR gene mutationsDNA repair genesFirst-degree relativesLikely pathogenic variantsSingle nucleotide variantsMLH1 promoter methylationTumor mutational profileExhibit microsatellite instability
2012
BMPR1A mutations in early‐onset colorectal cancer with mismatch repair proficiency
Fernandez‐Rozadilla C, Brea‐Fernández A, Bessa X, Álvarez‐Urturi C, Abulí A, Clofent J, Payá A, Consortium T, Jover R, Xicola R, Llor X, Andreu M, Castells A, Carracedo Á, Castellví‐Bel S, Ruiz‐Ponte C. BMPR1A mutations in early‐onset colorectal cancer with mismatch repair proficiency. Clinical Genetics 2012, 84: 94-96. PMID: 23057600, DOI: 10.1111/cge.12023.Peer-Reviewed Original Research
2011
Validation Microsatellite Path Score in a Population-Based Cohort of Patients With Colorectal Cancer
Bessa X, Alenda C, Paya A, Álvarez C, Iglesias M, Seoane A, Dedeu JM, Abulí A, Ilzarbe L, Navarro G, Pellise M, Balaguer F, Castellvi-Bel S, LLor X, Castells A, Jover R, Andreu M. Validation Microsatellite Path Score in a Population-Based Cohort of Patients With Colorectal Cancer. Journal Of Clinical Oncology 2011, 29: 3374-3380. PMID: 21788563, DOI: 10.1200/jco.2010.34.3947.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenocarcinomaAdenocarcinoma, MucinousAgedCarcinoma, MedullaryCarcinoma, Signet Ring CellCohort StudiesColorectal NeoplasmsDNA Mismatch RepairFemaleFollow-Up StudiesGerm-Line MutationHeterozygoteHumansMaleMicrosatellite InstabilityMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsPrognosisProspective StudiesProto-Oncogene Proteins B-rafSensitivity and SpecificitySpainConceptsPositive predictive valuePathologic featuresColorectal cancerLynch syndromeGermline MSH2 mutationMLH1/MSH2Cohort of patientsColorectal cancer populationSelection of patientsPopulation-based cohortBRAF mutation analysisMicrosatellite instability analysisHigher CRCGermline testingBethesda guidelinesTumor characteristicsPathological scoresTumor locationCancer populationMismatch repairMMR statusFamily historyMutation carriersPatientsMSH2 mutations
2008
Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients
Balmaña J, Balaguer F, Castellví-Bel S, Steyerberg EW, Andreu M, Llor X, Jover R, Castells A, Syngal S, Association F. Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients. Journal Of Medical Genetics 2008, 45: 557. PMID: 18603628, DOI: 10.1136/jmg.2008.059311.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAgedAged, 80 and overCohort StudiesColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mutational AnalysisFemaleGenetic Carrier ScreeningGenetic TestingHeterozygoteHumansMaleMiddle AgedModels, GeneticMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsConceptsMLH1/MSH2 mutation carriersPositive predictive valueMSH2 mutation carriersMutation carriersMMR deficiencyClinical criteriaMismatch repair gene mutationsAmsterdam II criteriaColorectal cancer patientsIdentification of patientsPopulation-based cohortOverall discriminative abilityColorectal cancer cohortRepair gene mutationsGermline testingCRC patientsBethesda guidelinesCancer patientsLynch syndromeCancer cohortPredictive scorePredictive valueSimilar AUCMicrosatellite instabilityObserved prevalence
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
2006
Clinical Performance of Original and Revised Bethesda Guidelines for the Identification of MSH2/MLH1 Gene Carriers in Patients with Newly Diagnosed Colorectal Cancer: Proposal of a New and Simpler Set of Recommendations
Rodríguez-Moranta F, Castells A, Andreu M, Piñol V, Castellví-Bel S, Alenda C, Llor X, Xicola RM, Jover R, Payá A, Bessa X, Balaguer F, Cubiella J, Argüello L, Morillas JD, Bujanda L. Clinical Performance of Original and Revised Bethesda Guidelines for the Identification of MSH2/MLH1 Gene Carriers in Patients with Newly Diagnosed Colorectal Cancer: Proposal of a New and Simpler Set of Recommendations. The American Journal Of Gastroenterology 2006, 101: ajg2006204. PMID: 16696788, DOI: 10.1111/j.1572-0241.2006.00522.x.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAgedCarrier ProteinsColorectal NeoplasmsEpidemiologic StudiesHeterozygoteHumansMiddle AgedMutationMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsPractice Guidelines as TopicPredictive Value of TestsProspective StudiesSensitivity and SpecificitySpainConceptsBethesda guidelinesColorectal cancerNegative predictive valuePredictive valueClinical performanceMLH1 germline mutationsGene mutation carriersLogistic regression analysisNational Cancer InstitutePositive predictive valueCancer genetic testingMutation carriersIdentification of individualsEpidemiology SurveysCancer InstitutePatientsGenetic testingGermline mutationsEPICOLON studyCancerOriginal guidelinesGene carriersRegression analysisGuidelinesTerms of sensitivity
2005
Accuracy of Revised Bethesda Guidelines, Microsatellite Instability, and Immunohistochemistry for the Identification of Patients With Hereditary Nonpolyposis Colorectal Cancer
Piñol V, Castells A, Andreu M, Castellví-Bel S, Alenda C, Llor X, Xicola RM, Rodríguez-Moranta F, Payá A, Jover R, Bessa X, Association F. Accuracy of Revised Bethesda Guidelines, Microsatellite Instability, and Immunohistochemistry for the Identification of Patients With Hereditary Nonpolyposis Colorectal Cancer. JAMA 2005, 293: 1986-1994. PMID: 15855432, DOI: 10.1001/jama.293.16.1986.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAgedCarrier ProteinsChromosomal InstabilityColorectal Neoplasms, Hereditary NonpolyposisCost-Benefit AnalysisDNA Mutational AnalysisDNA-Binding ProteinsFemaleGenetic Carrier ScreeningGenetic TestingGerm-Line MutationGuidelines as TopicHeterozygoteHumansImmunohistochemistryMaleMicrosatellite RepeatsMiddle AgedMutL Protein Homolog 1MutS Homolog 2 ProteinNeoplasm ProteinsNuclear ProteinsPredictive Value of TestsProspective StudiesProto-Oncogene ProteinsSensitivity and SpecificitySpainConceptsMicrosatellite instability testingBethesda guidelinesMLH1 germline mutationsInstability testingMicrosatellite instabilityGermline testingColorectal cancerGermline mutationsHereditary nonpolyposis colorectal cancerRevised Bethesda GuidelinesProtein expressionIdentification of patientsLogistic regression analysisNonpolyposis colorectal cancerMismatch repair deficiencyNational Cancer InstituteCancer genetic testingTumor characteristicsClinical parametersFamily historyNationwide studyIdentification of individualsCancer InstitutePatientsGenetic testing