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
2015
Family history of skin cancer is associated with early-onset basal cell carcinoma independent of MC1R genotype
Berlin NL, Cartmel B, Leffell DJ, Bale AE, Mayne ST, Ferrucci LM. Family history of skin cancer is associated with early-onset basal cell carcinoma independent of MC1R genotype. Cancer Epidemiology 2015, 39: 1078-1083. PMID: 26381319, PMCID: PMC4679454, DOI: 10.1016/j.canep.2015.09.005.Peer-Reviewed Original ResearchConceptsEarly-onset basal cell carcinomaBasal cell carcinomaFamily historySkin cancerAge of onsetLifestyle factorsBenign skin conditionsStrong risk factorFirst-degree relativesMC1R genotypeCell carcinomaRisk factorsAge 40High riskLifestyle characteristicsAge 50Particular malignancySkin conditionsBCC casesCancerGenetic susceptibilitySaliva samplesMultivariate modelIndividual riskAffected relativesIndoor Tanning and the MC1R Genotype: Risk Prediction for Basal Cell Carcinoma Risk in Young People
Molinaro AM, Ferrucci LM, Cartmel B, Loftfield E, Leffell DJ, Bale AE, Mayne ST. Indoor Tanning and the MC1R Genotype: Risk Prediction for Basal Cell Carcinoma Risk in Young People. American Journal Of Epidemiology 2015, 181: 908-916. PMID: 25858289, PMCID: PMC4445390, DOI: 10.1093/aje/kwu356.Peer-Reviewed Original ResearchConceptsRisk prediction modelCancer risk prediction modelsIndoor tanningBasal cell carcinoma incidenceBasal cell carcinoma riskNovel risk prediction modelRisk of BCCRisk predictionCase-control studyNon-Hispanic whitesLogistic regression modelsCancer risk predictionSignificant morbidityCarcinoma incidenceAdjusted areaCarcinoma riskIndependent cohortYoung individualsTreatment costsMC1R variantsYoung peopleReceptor geneCharacteristic curve
2011
Host Phenotype Characteristics and MC1R in Relation to Early-Onset Basal Cell Carcinoma
Ferrucci LM, Cartmel B, Molinaro AM, Gordon PB, Leffell DJ, Bale AE, Mayne ST. Host Phenotype Characteristics and MC1R in Relation to Early-Onset Basal Cell Carcinoma. Journal Of Investigative Dermatology 2011, 132: 1272-1279. PMID: 22158557, PMCID: PMC3305835, DOI: 10.1038/jid.2011.402.Peer-Reviewed Original ResearchConceptsDermatopathology databaseSkin reactionsCase statusBasal cell carcinoma incidenceMelanocortin 1 receptor gene variantsNon-synonymous variantsBenign skin conditionsBasal cell carcinomaReceptor gene variantsCarcinoma incidenceCell carcinomaBCC riskEpidemiologic studiesSelf-reported phenotypesLower riskSkin conditionsBCC casesSkin cancerOlder populationYoung individualsGene variantsPhenotype-genotype interactionsHost characteristicsPhenotype characteristicSkin color
2005
PTCH codon 1315 polymorphism and risk for nonmelanoma skin cancer
Asplund A, Gustafsson AC, Wikonkal NM, Sela A, Leffell DJ, Kidd K, Lundeberg J, Brash DE, Pontén F. PTCH codon 1315 polymorphism and risk for nonmelanoma skin cancer. British Journal Of Dermatology 2005, 152: 868-873. PMID: 15888139, DOI: 10.1111/j.1365-2133.2005.06464.x.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Basal CellCarcinoma, Squamous CellCodonGenetic Predisposition to DiseaseGenotypeHair ColorHumansLoss of HeterozygosityNeoplasm ProteinsPatched ReceptorsPatched-1 ReceptorPilot ProjectsPolymerase Chain ReactionPolymorphism, Single NucleotideReceptors, Cell SurfaceSkin NeoplasmsSkin PigmentationConceptsPro/Pro genotypeNonmelanoma skin cancerBasal cell carcinomaPTCH tumor suppressor geneSquamous cell carcinomaAllele frequency variationAllelic loss studiesTumor suppressor genePro genotypeSingle nucleotide polymorphismsAllelic lossGenomic DNANonrandom lossSuppressor geneCell carcinomaSwedish patientsEpithelial cell cancersLight pigmentationSkin cancerNucleotide polymorphismsMultiple basal cell carcinomasPro/LeuHuman populationPTCH geneAllele frequencies