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
2020
1 IMPROVING LYNCH SYNDROME IDENTIFICATION THROUGH THE IMPLEMENTATION OF ENHANCED TUMOR TESTING AND A COMPREHENSIVE SYSTEMS APPROACH
Singh V, Ganzak A, Gershkovich P, Gibson J, Llor X. 1 IMPROVING LYNCH SYNDROME IDENTIFICATION THROUGH THE IMPLEMENTATION OF ENHANCED TUMOR TESTING AND A COMPREHENSIVE SYSTEMS APPROACH. Gastroenterology 2020, 158: s-1. DOI: 10.1016/s0016-5085(20)30682-x.Peer-Reviewed Original Research