2017
UroMark—a urinary biomarker assay for the detection of bladder cancer
Feber A, Dhami P, Dong L, de Winter P, Tan W, Martínez-Fernández M, Paul D, Hynes-Allen A, Rezaee S, Gurung P, Rodney S, Mehmood A, Villacampa F, de la Rosa F, Jameson C, Cheng K, Zeegers M, Bryan R, James N, Paramio J, Freeman A, Beck S, Kelly J. UroMark—a urinary biomarker assay for the detection of bladder cancer. Clinical Epigenetics 2017, 9: 8. PMID: 28163793, PMCID: PMC5282868, DOI: 10.1186/s13148-016-0303-5.Peer-Reviewed Original ResearchConceptsDetection of bladder cancerEpigenetic alterationsSequencing assayNovel high-throughputBladder cancerBackgroundBladder cancerNext-generation sequencing assayUrinary biomarkersDNA methylationMuscle-invasive bladder cancerUrinary biomarker assaysSediment DNAAnalysis pipelineVoided urine samplesDetection of BCPrimary BCHigh-throughputCystoscopic examinationVoided urineDNAIndependent cohortAssayBiomarker panelDiagnosed BCCancer
2016
CSN1 Somatic Mutations in Penile Squamous Cell Carcinoma
Feber A, Worth D, Chakravarthy A, de Winter P, Shah K, Arya M, Saqib M, Nigam R, Malone P, Tan W, Rodney S, Freeman A, Jameson C, Wilson G, Powles T, Beck S, Fenton T, Sharp T, Muneer A, Kelly J. CSN1 Somatic Mutations in Penile Squamous Cell Carcinoma. Cancer Research 2016, 76: 4720-4727. PMID: 27325650, PMCID: PMC5302160, DOI: 10.1158/0008-5472.can-15-3134.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingResequencing of candidate genesPenile cancerMiRNA-mediated gene silencingCytoplasmic P-bodiesCopy-number informationAnalysis of somatic alterationsSomatic mutation landscapeDevelopment of penile cancerPenile squamous cell carcinomaTargeted resequencingCandidate genesDNA methylationGene silencingHPV-negative diseaseP-bodiesRecurrent mutationsLandscape of alterationsAPOBEC mutational signaturesSquamous cell carcinomaGermline DNASomatic alterationsMutation dataMutational signaturesGenetic alterations