2007
A Prospective, Multicenter, Population-Based Study of BRAF Mutational Analysis for Lynch Syndrome Screening
Bessa X, Ballesté B, Andreu M, Castells A, Bellosillo B, Balaguer F, Castellví–bel S, Paya A, Jover R, Alenda C, Titó L, Martinez–Villacampa M, Vilella A, Xicola RM, Pons E, Llor X, Association G. A Prospective, Multicenter, Population-Based Study of BRAF Mutational Analysis for Lynch Syndrome Screening. Clinical Gastroenterology And Hepatology 2007, 6: 206-214. PMID: 18096441, DOI: 10.1016/j.cgh.2007.10.011.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAgedAged, 80 and overAmino Acid SubstitutionColorectal Neoplasms, Hereditary NonpolyposisFemaleGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHumansMaleMiddle AgedMutL Protein Homolog 1MutL ProteinsNeoplasm ProteinsNuclear ProteinsPolymorphism, GeneticProspective StudiesProto-Oncogene Proteins B-rafConceptsSporadic colorectal cancerColorectal cancerCRC patientsMMR deficiencyBRAF mutationsV600E mutationGenetic testingGermline mutationsHereditary nonpolyposis colorectal cancerLynch syndrome screeningGermline genetic testingMLH1 germline mutationsPopulation-based studyGene mutation carriersMMR genes MLH1Nonpolyposis colorectal cancerBRAF V600E mutationBRAF mutational analysisMLH1 promoter methylationBRAF mutation analysisBRAF V600E mutation analysisMutation analysisBRAF analysisLynch syndromeFamily history
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