2022
Germline variants associated with toxicity to immune checkpoint blockade
Groha S, Alaiwi S, Xu W, Naranbhai V, Nassar A, Bakouny Z, El Zarif T, Saliby R, Wan G, Rajeh A, Adib E, Nuzzo P, Schmidt A, Labaki C, Ricciuti B, Alessi J, Braun D, Shukla S, Keenan T, Van Allen E, Awad M, Manos M, Rahma O, Zubiri L, Villani A, Fairfax B, Hammer C, Khan Z, Reynolds K, Semenov Y, Schrag D, Kehl K, Freedman M, Choueiri T, Gusev A. Germline variants associated with toxicity to immune checkpoint blockade. Nature Medicine 2022, 28: 2584-2591. PMID: 36526723, PMCID: PMC10958775, DOI: 10.1038/s41591-022-02094-6.Peer-Reviewed Original ResearchConceptsImmune-related adverse eventsImmune checkpoint inhibitorsGrade immune-related adverse eventsGermline variantsICI initiationCheckpoint inhibitorsAdverse eventsCheckpoint blockadeImproved survivalDiscovery cohortLymphocyte homeostasisSignificant associationCancer typesIL7Remarkable responsePatientsCritical regulatorGenome-wide significant associationAssociationWide association studyIndependent studiesAssociation studiesBlockadeCohortVariants
2020
Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma
Lasseter K, Nassar AH, Hamieh L, Berchuck JE, Nuzzo PV, Korthauer K, Shinagare AB, Ogorek B, McKay R, Thorner AR, Lee GM, Braun DA, Bhatt RS, Freedman M, Choueiri TK, Kwiatkowski DJ. Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma. Genetics In Medicine 2020, 22: 1366-1373. PMID: 32341571, DOI: 10.1038/s41436-020-0801-x.Peer-Reviewed Original ResearchConceptsMRCC patientsCancer subtypesCfDNA analysisMetastatic RCC patientsRenal cell carcinomaMRCC casesRCC patientsCell carcinomaControl subjectsVariant analysisCfDNA variantsSeparate cohortPatientsSerial samplesGermline variantsTumor sequencingClonal hematopoiesisVariant findingsTherapyCandidate variantsSubtypesCancer detectionCfMeDIP-seqVariant frequencyCarcinoma