2017
Squamous proliferations on the legs of women: Qualitative examination of histopathology, TP53 sequencing, and implications for diagnosis in a series of 30 cases
Ko CJ, Glusac EJ, McNiff JM, Rodic N, Leffell DJ. Squamous proliferations on the legs of women: Qualitative examination of histopathology, TP53 sequencing, and implications for diagnosis in a series of 30 cases. Journal Of The American Academy Of Dermatology 2017, 77: 1126-1132.e1. PMID: 28709693, DOI: 10.1016/j.jaad.2017.04.1119.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overBase SequenceCarcinoma, Squamous CellFemaleGenes, p53HumansKeratoacanthomaLegSkin NeoplasmsConceptsSquamous cell carcinomaProminent cytologic atypiaMultiple squamous cell carcinomasCytologic atypiaSquamous proliferationTP53 mutationsDetectable TP53 mutationsLegs of womenFollicle-like structuresCell carcinomaHistopathologic findingsMultiple lesionsSCC lesionsHistopathologic analysisTP53 sequencingNumerous tumorsSmall seriesTP53 variantsClinical phenotypeKeratoacanthomaLesionsTumorsDifferent patientsAtypiaReactive phenomenon
1996
Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome
Hahn H, Wicking C, Zaphiropoulos P, Gailani M, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden A, Gillies S, Negus K, Smyth I, Pressman C, Leffell D, Gerrard B, Goldstein A, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale A. Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome. Cell 1996, 85: 841-851. PMID: 8681379, DOI: 10.1016/s0092-8674(00)81268-4.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAnimalsBasal Cell Nevus SyndromeBase SequenceChromosome MappingChromosomes, Human, Pair 9Cloning, MolecularDNA, ComplementaryDrosophilaDrosophila ProteinsExonsFemaleGene DeletionGene ExpressionGenes, Tumor SuppressorHumansIn Vitro TechniquesInsect HormonesIntronsMembrane ProteinsMolecular Sequence DataMutationPedigreeReceptors, Cell SurfaceSequence Homology, Nucleic AcidConceptsDrosophila segment polarity geneSegment polarity genesCertain cell typesDevelopmental abnormalitiesPolarity genesHuman homologStrong homologySporadic basal cell carcinomasHuman sequenceCosmid contigTumor suppressorLoss of heterozygosityCell typesGenesPatched geneChromosome 9q22.3Complete lossFunction contributesNevoid basal cell carcinoma syndromeMutation analysisBasal cell carcinoma syndromeAutosomal dominant disorderNBCCS patientsDrosophilaDominant disorder
1993
Mutation hotspots due to sunlight in the p53 gene of nonmelanoma skin cancers.
Ziegler A, Leffell DJ, Kunala S, Sharma HW, Gailani M, Simon JA, Halperin AJ, Baden HP, Shapiro PE, Bale AE. Mutation hotspots due to sunlight in the p53 gene of nonmelanoma skin cancers. Proceedings Of The National Academy Of Sciences Of The United States Of America 1993, 90: 4216-4220. PMID: 8483937, PMCID: PMC46477, DOI: 10.1073/pnas.90.9.4216.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaCell carcinomaSkin cancerPercent of tumorsSquamous cell carcinomaNonmelanoma skin cancerP53 tumor suppressor geneDipyrimidine sitesBCC developmentMutation hotspotsCancerTumor suppressor geneP53 genePoint mutationsAllelic lossCarcinomaTwo-thirdsSuppressor geneGenetic eventsSkinP53Such mutationsMutationsCarcinogenic mutationsTumors