2023
Spectrum and implications of activating BRAF alterations in advanced prostate cancer (aPC).
Chehrazi-Raffle A, Tukachinsky H, Schrock A, Hwang J, Zengin Z, Meza L, Chawla N, Ebrahimi H, Govindarajan A, Castro D, Rock A, Tripathi A, Dorff T, Pal S, Oxnard G, Agarwal N, Antonarakis E. Spectrum and implications of activating BRAF alterations in advanced prostate cancer (aPC). Journal Of Clinical Oncology 2023, 41: 220-220. DOI: 10.1200/jco.2023.41.6_suppl.220.Peer-Reviewed Original ResearchAdvanced prostate cancerComprehensive genomic profilingGenomic alterationsBRAF alterationsTissue biopsiesCancer typesFurther clinical investigationTMPRSS2-ERG fusionFoundationOne CDxMedian ageCommon genomic alterationsAPC patientsProstate cancerMolecular subtypesClinical investigationHigh incidenceActionable targetsBRAF rearrangementsCancer-related genesHotspot missense mutationsGenomic profilingBRAFCDK12 mutationsGenetic activationBiopsy
2021
Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita
Wu TT, Eldirany SA, Bunick CG, Teng JMC. Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita. Journal Of Investigative Dermatology 2021, 141: 2876-2884.e4. PMID: 34116063, PMCID: PMC8922998, DOI: 10.1016/j.jid.2021.03.035.Peer-Reviewed Original ResearchConceptsPachyonychia congenitaInternational PC Research RegistryPainful palmoplantar keratodermaPhenotype correlationNatal teethNail involvementClinical manifestationsKeratin subtypesFollicular hyperkeratosisResearch RegistryOral leukokeratosisPC pathogenesisNail dystrophyPathologic alterationsCutaneous cystsDisease pathogenesisHotspot missense mutationsPatientsClinical phenotypeGreater impairmentGenetic testingHigh-frequency mutationsTherapeutic developmentPalmoplantar keratodermaGenetic disorders
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