2025
Cost-effectiveness of Lynch syndrome screening in colorectal cancer: universal germline vs sequential screening
Ito S, Xicola R, Sra M, Potnis K, Singh V, Gershkovich P, Stites E, Gibson J, Krumholz H, Llor X, Goshua G. Cost-effectiveness of Lynch syndrome screening in colorectal cancer: universal germline vs sequential screening. Clinical Gastroenterology And Hepatology 2025 PMID: 40315972, DOI: 10.1016/j.cgh.2025.03.006.Peer-Reviewed Original ResearchLynch syndromeIncremental cost-effectiveness ratioGermline testingColorectal cancerProspective Lynch Syndrome DatabaseColorectal cancer probandsNational Cancer Institute's SurveillancePre-/post-interventionPreventing cancer incidenceLynch syndrome screeningEnd Results ProgramCost-effective interventionHealth system perspectiveCost-effectiveCancer incidenceQuality-adjusted life expectancyInstitute's SurveillanceResults ProgramProspective interventionStandard-of-careCost-effectiveness ratioLS testingCohort studyGenetic testingPrimary outcome
2022
Systems approach to enhance Lynch syndrome diagnosis through tumour testing
Singh V, Mezzacappa C, Gershkovich P, Di Giovanna J, Ganzak A, Gibson J, Sinard J, Xicola RM, Llor X. Systems approach to enhance Lynch syndrome diagnosis through tumour testing. Journal Of Medical Genetics 2022, 60: 533-539. PMID: 36115663, PMCID: PMC10020126, DOI: 10.1136/jmg-2022-108770.Peer-Reviewed Original ResearchConceptsOriginal cohortColorectal adenocarcinomaLynch syndromeTumor testingGenetic testingPercentage of patientsProportion of patientsLynch syndrome diagnosisCG evaluationCancer genetic testingRace/ethnicityCRC testingCohort studyMMR immunohistochemistryLS diagnosisNew diagnosisMMR lossAcademic centersPatientsSyndrome diagnosisCohortCase identificationMethylation testingReferral differencesReferral mechanisms
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