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
1996
Mutations 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 disorder
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