2018
Cutaneous immunohistochemical staining pattern of p53β isoforms
Ko CJ, Myung P, Leffell DJ, Bourdon JC. Cutaneous immunohistochemical staining pattern of p53β isoforms. Journal Of Clinical Pathology 2018, 71: 1120. PMID: 30305316, DOI: 10.1136/jclinpath-2018-205098.Peer-Reviewed Original ResearchConceptsSquamous tumorsMarkers of differentiationSquamous proliferationIsoforms of p53Mutational statusHair folliclesP53 pathwayDomain mutationsExact biological significanceP53Differentiated layersSkinP53 isoformsSuch mutationsIsoformsDifferent isoformsNumerous functionsTumorsCancerMutationsFolliclesBiological significance
2001
Novel inactivating mutations of transforming growth factor‐β type I receptor gene in head‐and‐neck cancer metastases
Chen T, Yan W, Wells R, Rimm D, McNiff J, Leffell D, Reiss M. Novel inactivating mutations of transforming growth factor‐β type I receptor gene in head‐and‐neck cancer metastases. International Journal Of Cancer 2001, 93: 653-661. PMID: 11477574, DOI: 10.1002/ijc.1381.Peer-Reviewed Original ResearchMeSH KeywordsActivin Receptors, Type IAmino Acid SequenceDisease ProgressionEndoplasmic ReticulumFemaleHead and Neck NeoplasmsHumansMaleMolecular Sequence DataMutationNeoplasms, Glandular and EpithelialNeoplasms, Unknown PrimaryProtein Serine-Threonine KinasesReceptor, Transforming Growth Factor-beta Type IReceptors, Transforming Growth Factor betaSequence Homology, Amino AcidSignal TransductionTransforming Growth Factor betaConceptsT beta RNeck cancer metastasisTGF-beta signalingCancer metastasisBeta RTGF betaBeta signalingLate-stage diseaseHuman epithelial neoplasmsCorresponding primary tumorsBreast cancer metastasisFine needle aspiratesTGF-beta type I receptorNovel inactivating mutationsBeta type I receptorType I receptorStage diseaseCarcinoma cell linesPrimary tumorCell cycle arrestEpithelial neoplasmsCodon 387MetastasisI receptorHuman tumors
2000
The scientific basis of skin cancer
Leffell D. The scientific basis of skin cancer. Journal Of The American Academy Of Dermatology 2000, 42: s18-s22. PMID: 10607352, DOI: 10.1067/mjd.2000.103340.Peer-Reviewed Original Research
1996
Frequent clones of p53-mutated keratinocytes in normal human skin
Jonason A, Kunala S, Price G, Restifo R, Spinelli H, Persing J, Leffell D, Tarone R, Brash D. Frequent clones of p53-mutated keratinocytes in normal human skin. Proceedings Of The National Academy Of Sciences Of The United States Of America 1996, 93: 14025-14029. PMID: 8943054, PMCID: PMC19488, DOI: 10.1073/pnas.93.24.14025.Peer-Reviewed Original ResearchConceptsP53-mutated keratinocytesNormal individualsSun-shielded skinSun-exposed skinNormal human skinHuman skinWhole-mount preparationsP53-mutated cellsCancer predictsDermal-epidermal junctionSubstantial burdenFrequent clonesClonal expansionHair folliclesGenetic hitsTumor promoterSkinKeratinocytesCellsThe role of the human homologue of Drosophila patched in sporadic basal cell carcinomas
Gailani M, Ståhle-Bäckdahl M, Leffell D, Glyn M, Zaphiropoulos P, Undén A, Dean M, Brash D, Bale A, Toftgård R. The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. Nature Genetics 1996, 14: 78-81. PMID: 8782823, DOI: 10.1038/ng0996-78.Peer-Reviewed Original ResearchConceptsSporadic basal cell carcinomasSingle-strand conformational polymorphismTumor suppressorDrosophila segment polarity geneSegment polarity genesHedgehog target genesPolarity genesDrosophila mutantsStrong homologyHuman homologueTarget genesMutational inactivationMutant transcriptsStrand conformational polymorphismNorthern blotSSCP variantsGenesNegative feedback mechanismSitu hybridizationConformational polymorphismNevoid basal cell carcinoma syndromeSuppressorAllelic lossInactivationMutationsMutations 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 disorderTumor Suppressor Gene Mutations and Photocarcinogenesis
Ziegler A, Jonason A, Simon J, Leffell D, Brash DE. Tumor Suppressor Gene Mutations and Photocarcinogenesis. Photochemistry And Photobiology 1996, 63: 432-435. PMID: 8934758, DOI: 10.1111/j.1751-1097.1996.tb03064.x.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsRelationship Between Sunlight Exposure and a Key Genetic Alteration in Basal Cell Carcinoma
Gailani M, Leffell D, Ziegler A, Gross E, Brash D, Bale A. Relationship Between Sunlight Exposure and a Key Genetic Alteration in Basal Cell Carcinoma. Journal Of The National Cancer Institute 1996, 88: 349-354. PMID: 8609643, DOI: 10.1093/jnci/88.6.349.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaLoss of heterozygosityCell carcinomaP53 geneSunlight exposureExact testGenetic alterationsPathogenesis of BCCSun-exposed areasFrequency of LOHMohs micrographic surgical techniqueEnvironmental agentsLocation of tumorFisher's exact testSkin cancer patientsKey genetic alterationsUVB radiationChi-squared analysisFrequent genetic alterationsLimited associationSpecific environmental agentsBCC incidenceTumor characteristicsCancer patientsCommon cancer
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
1992
Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9
Gailani M, Bale S, Leffell D, DiGiovanna J, Peck G, Poliak S, Drum M, Pastakia B, McBride O, Kase R, Greene M, Mulvihill J, Bale A. Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell 1992, 69: 111-117. PMID: 1348213, DOI: 10.1016/0092-8674(92)90122-s.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaSporadic basal cell carcinomasCell carcinomaLoss of heterozygosityGorlin syndromeHereditary tumorsTumor suppressor geneHereditary basal cell carcinomasMultiple congenital anomaliesSuppressor geneAutosomal dominant disorderOvarian fibromaCongenital anomaliesCarcinomaGermline mutationsHereditary disorderPutative tumor suppressor geneDevelopmental defectsSyndromeGorlin syndrome geneDominant disorderAllelic lossGenetic linkage studiesTumorsTumor suppressor