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
1991
A role for sunlight in skin cancer: UV-induced p53 mutations in squamous cell carcinoma.
Brash DE, Rudolph JA, Simon JA, Lin A, McKenna GJ, Baden HP, Halperin AJ, Pontén J. A role for sunlight in skin cancer: UV-induced p53 mutations in squamous cell carcinoma. Proceedings Of The National Academy Of Sciences Of The United States Of America 1991, 88: 10124-10128. PMID: 1946433, PMCID: PMC52880, DOI: 10.1073/pnas.88.22.10124.Peer-Reviewed Original ResearchConceptsSquamous cell carcinomaCell carcinomaP53 mutationsMajor epidemiologic risk factorsUV-induced p53 mutationsInvasive squamous cell carcinomaEpidemiologic risk factorsUV-specific mutationsP53 tumor suppressor geneInternal malignancySwedish patientsRisk factorsSkin cancerTumor progressionTT double-base changesTumor suppressor geneCarcinomaHuman cancersCancerDipyrimidine sitesSuppressor geneT substitutionSkinMutationsPatients