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
Mutational signature profiling classifies subtypes of clinically different mismatch-repair-deficient tumours with a differential immunogenic response potential
Giner-Calabuig M, De Leon S, Wang J, Fehlmann TD, Ukaegbu C, Gibson J, Alustiza-Fernandez M, Pico MD, Alenda C, Herraiz M, Carrillo-Palau M, Salces I, Reyes J, Ortega SP, Obrador-Hevia A, Cecchini M, Syngal S, Stoffel E, Ellis NA, Sweasy J, Jover R, Llor X, Xicola RM. Mutational signature profiling classifies subtypes of clinically different mismatch-repair-deficient tumours with a differential immunogenic response potential. British Journal Of Cancer 2022, 126: 1595-1603. PMID: 35197584, PMCID: PMC9130322, DOI: 10.1038/s41416-022-01754-1.Peer-Reviewed Original ResearchConceptsLynch-like syndromeMMR-deficient tumorsLynch syndromeMicrosatellite instabilityPercent of tumorsMSH2/MSH6 expressionColorectal cancer tumorsPMS2 protein expressionMutational signaturesResultsFifty-three percentClinical managementNeoantigen presentationMSH6 expressionHallmark of tumorsTumor behaviorMMR deficiencyClinical phenotypeDeficient tumorsTumorsSporadic tumorsCancer tumorsMutational profileProtein expressionRepair deficiencySyndrome