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
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