2014
Novel gene identified in an exome‐wide association study of tanning dependence
Cartmel B, Dewan A, Ferrucci LM, Gelernter J, Stapleton J, Leffell DJ, Mayne ST, Bale AE. Novel gene identified in an exome‐wide association study of tanning dependence. Experimental Dermatology 2014, 23: 757-759. PMID: 25041255, PMCID: PMC4204712, DOI: 10.1111/exd.12503.Peer-Reviewed Original Research
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