2024
Mismatch Repair Proficient Colorectal Adenocarcinoma in Two Patients With Lynch Syndrome
Khandakar B, Lacy J, Gibson J. Mismatch Repair Proficient Colorectal Adenocarcinoma in Two Patients With Lynch Syndrome. Clinical Genetics 2024 PMID: 39660603, DOI: 10.1111/cge.14670.Peer-Reviewed Original ResearchLynch syndromeColorectal carcinomaResponse to immune checkpoint inhibitorsImpact of molecular classificationImmune checkpoint inhibitorsColorectal carcinoma developmentMismatch repairMicrosatellite instabilityResponse to treatmentPMS2 variantsCheckpoint inhibitorsPembrolizumab treatmentPathological responsePatient AGermline variantsColorectal adenocarcinomaMismatch repair proteinsMolecular classificationLS patients
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