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
2020
Microsatellite instability and KRAS mutation in stage 4 CRC: Prevalence, geographic discrepancies and outcomes from the National Cancer Database.
Uhlig J, Cecchini M, Stein S, Lacy J, Kim K. Microsatellite instability and KRAS mutation in stage 4 CRC: Prevalence, geographic discrepancies and outcomes from the National Cancer Database. Journal Of Clinical Oncology 2020, 38: e16052-e16052. DOI: 10.1200/jco.2020.38.15_suppl.e16052.Peer-Reviewed Original ResearchNational Cancer DatabaseOverall survivalKRAS statusKRAS mutationsMicrosatellite instabilityMicrosatellite statusCancer DatabaseCRC siteStage IV colorectal adenocarcinomaStage IV CRC patientsUnited States National Cancer DatabaseCox proportional hazards modelStage IV CRCKRAS mutation rateRight-sided CRCProportional hazards modelDistinct prognostic profilesStatistical interaction testsKRAS wildtypePatient demographicsCRC patientsMetastatic burdenCRC treatmentMultivariable analysisPrognostic profile