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 ResearchSystemic glucocorticoid use and early-onset basal cell carcinoma
Troche JR, Ferrucci LM, Cartmel B, Leffell DJ, Bale AE, Mayne ST. Systemic glucocorticoid use and early-onset basal cell carcinoma. Annals Of Epidemiology 2014, 24: 625-627. PMID: 24958637, PMCID: PMC4119504, DOI: 10.1016/j.annepidem.2014.05.009.Peer-Reviewed Original Research
2013
Indoor Tanning and Tanning Dependence in Young People After a Diagnosis of Basal Cell Carcinoma
Cartmel B, Ferrucci LM, Spain P, Bale AE, Pagoto SL, Leffell DJ, Gelernter J, Mayne ST. Indoor Tanning and Tanning Dependence in Young People After a Diagnosis of Basal Cell Carcinoma. JAMA Dermatology 2013, 149: 1110-1111. PMID: 23824273, PMCID: PMC3782995, DOI: 10.1001/jamadermatol.2013.5104.Peer-Reviewed Original Research
2012
Lifetime history of indoor tanning in young people: a retrospective assessment of initiation, persistence, and correlates
Lostritto K, Ferrucci LM, Cartmel B, Leffell DJ, Molinaro AM, Bale AE, Mayne ST. Lifetime history of indoor tanning in young people: a retrospective assessment of initiation, persistence, and correlates. BMC Public Health 2012, 12: 118. PMID: 22324969, PMCID: PMC3340300, DOI: 10.1186/1471-2458-12-118.Peer-Reviewed Original Research
2011
Indoor tanning and risk of early-onset basal cell carcinoma
Ferrucci LM, Cartmel B, Molinaro AM, Leffell DJ, Bale AE, Mayne ST. Indoor tanning and risk of early-onset basal cell carcinoma. Journal Of The American Academy Of Dermatology 2011, 67: 552-562. PMID: 22153793, PMCID: PMC3307842, DOI: 10.1016/j.jaad.2011.11.940.Peer-Reviewed Original ResearchConceptsEarly-onset basal cell carcinomaBasal cell carcinomaIndoor tanningCell carcinomaOdds ratioMultiple basal cell carcinomasBenign skin conditionsStrong risk factorConfidence intervalsMultivariate logistic regressionPotential recall biasYears of ageExposure-disease relationshipsIndoor tanning devicesAge of initiationRisk factorsBiopsy siteEpidemiologic studiesSkin conditionsReferent groupControl populationTanning devicesLogistic regressionRecall biasIndoor tannersHost 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 colorLoss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma
Wang NJ, Sanborn Z, Arnett KL, Bayston LJ, Liao W, Proby CM, Leigh IM, Collisson EA, Gordon PB, Jakkula L, Pennypacker S, Zou Y, Sharma M, North JP, Vemula SS, Mauro TM, Neuhaus IM, LeBoit PE, Hur JS, Park K, Huh N, Kwok PY, Arron ST, Massion PP, Bale AE, Haussler D, Cleaver JE, Gray JW, Spellman PT, South AP, Aster JC, Blacklow SC, Cho RJ. Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 17761-17766. PMID: 22006338, PMCID: PMC3203814, DOI: 10.1073/pnas.1114669108.Peer-Reviewed Original ResearchConceptsSquamous cell carcinomaLung squamous cell carcinomaCell carcinomaEpithelial malignanciesCutaneous squamous cell carcinomaLymphoblastic leukemia/lymphomaB-cell chronic lymphocytic leukemiaT-cell lymphoblastic leukemia/lymphomaChronic lymphocytic leukemiaLeukemia/lymphomaSquamous epithelial malignanciesFunction mutationsLymphocytic leukemiaTP53 mutationsNotch receptorsHuman malignanciesNOTCH2 mutationsMalignancyCancer progressionFrequent formHuman cancersCell-based assaysOncogenic gainCarcinomaSomatic aberrationsHereditary Melanoma
Bonadies DC, Bale AE. Hereditary Melanoma. Current Problems In Cancer 2011, 35: 162-172. PMID: 21911180, DOI: 10.1016/j.currproblcancer.2011.07.001.Peer-Reviewed Original ResearchBasal Cell Carcinoma Arising in a Nevus Sebaceus in a Child with Facial Trichoepitheliomas
Jensen AL, Florell SR, Vanderhooft SL, Bale AE. Basal Cell Carcinoma Arising in a Nevus Sebaceus in a Child with Facial Trichoepitheliomas. Pediatric Dermatology 2011, 28: 138-141. PMID: 20738793, DOI: 10.1111/j.1525-1470.2010.01227.x.Peer-Reviewed Original Research
2006
Congenital linear unilateral basal cell nevus: a case report with patched gene molecular studies
Brailey L, Davis T, Kolker S, Murry T, Thomas D, Bale A, Ruhoy S. Congenital linear unilateral basal cell nevus: a case report with patched gene molecular studies. Journal Of Cutaneous Pathology 2006, 34: 65-70. PMID: 17214858, DOI: 10.1111/j.1600-0560.2006.00580.x.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaBasal cell nevusNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeCell carcinomaHistologic examinationCarcinoma syndromeLinear unilateral basal cell nevusPTCH mutationsBenign clinical behaviorPTCH locusSMO genesCase reportClinical behaviorDifferential diagnosisPatient's lesionFollicular hamartomaLoss of heterozygositySMO mutationsRight flankCarcinomaLesionsNeviShort tandem repeat DNA analysisPTCH
2001
The hedgehog pathway and basal cell carcinomas
Bale A, Yu K. The hedgehog pathway and basal cell carcinomas. Human Molecular Genetics 2001, 10: 757-762. PMID: 11257109, DOI: 10.1093/hmg/10.7.757.Peer-Reviewed Original ResearchConceptsGenetic studiesHereditary basal cell carcinomasDrosophila genesEmbryonic patterningDevelopmental genesDrosophila melanogasterCell fateHuman homologFruit flyHuman congenital anomaliesBiochemical pathwaysRational medical therapyDevelopmental pathwaysHedgehog pathwayGenesCell growthTumor formationPathwayGorlin syndromeBasal cell carcinomaMutationsHereditary diseaseBirth defectsDrosophilaMelanogaster
1997
Molecular basis of the nevoid basal cell carcinoma syndrome
Wicking C, Bale A. Molecular basis of the nevoid basal cell carcinoma syndrome. Current Opinion In Pediatrics 1997, 9: 630-635. PMID: 9425597, DOI: 10.1097/00008480-199712000-00013.Peer-Reviewed Original ResearchConceptsWidespread developmental defectsHereditary basal cell carcinomasDrosophila genesEmbryonic patterningCell fateEmbryonic developmentHuman homologueMolecular basisDevelopmental defectsTumor suppressorCancer predispositionGenesLoss of heterozygosityCell growthChromosome 9q22.3Basal cell carcinoma syndromeNevoid basal cell carcinoma syndromeMutationsAutosomal dominant disorderBirth defectsDrosophilaDominant disorderCarcinoma syndromeOrganogenesisHomologuesDevelopmental Genes and Cancer: Role of Patched in Basal Cell Carcinoma of the Skin
Gailani M, Bale A. Developmental Genes and Cancer: Role of Patched in Basal Cell Carcinoma of the Skin. Journal Of The National Cancer Institute 1997, 89: 1103-1109. PMID: 9262247, DOI: 10.1093/jnci/89.15.1103.Peer-Reviewed Original ResearchConceptsHereditary basal cell carcinomasDrosophila genesEmbryonic patterningDevelopmental genesCell fateEmbryonic developmentHuman homologueSporadic basal cell carcinomasBiochemical pathwaysDevelopmental defectsRational medical therapyTumor suppressorGenetic studiesGenesLoss of heterozygosityCell growthChromosome 9q22.3Rare genetic disorderNevoid basal cell carcinoma syndromeBCC formationGenetic disordersBasal cell carcinomaPathwayDrosophilaPatchedComplications of the Nevoid Basal Cell Carcinoma Syndrome
Walter A, Pivnick E, Bale A, Kun L. Complications of the Nevoid Basal Cell Carcinoma Syndrome. Journal Of Pediatric Hematology/Oncology 1997, 19: 258-262. PMID: 9201152, DOI: 10.1097/00043426-199705000-00016.Peer-Reviewed Original ResearchConceptsNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeBasal cell carcinomaCell carcinomaCarcinoma syndromeRadiation therapyAdditional basal cell carcinomasTumor DNAMultiple basal cell carcinomasCase reportCutaneous tumorsUnaffected family membersLoss of heterozygosityCarcinomaPatientsSyndromeTherapyGermline DNAMedulloblastomaPhotodynamic therapyGenetic lesionsFamily membersChildrenComplicationsNeoplasms
1996
The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas
Gailani M, Ståhle-Bäckdahl M, Leffell D, Glyn M, Zaphiropoulos P, Undén A, Dean M, Brash D, Bale A, Toftgård R. The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. Nature Genetics 1996, 14: 78-81. PMID: 8782823, DOI: 10.1038/ng0996-78.Peer-Reviewed Original ResearchConceptsSporadic basal cell carcinomasSingle-strand conformational polymorphismTumor suppressorDrosophila segment polarity geneSegment polarity genesHedgehog target genesPolarity genesDrosophila mutantsStrong homologyHuman homologueTarget genesMutational inactivationMutant transcriptsStrand conformational polymorphismNorthern blotSSCP variantsGenesNegative feedback mechanismSitu hybridizationConformational polymorphismNevoid basal cell carcinoma syndromeSuppressorAllelic lossInactivationMutationsRelationship Between Sunlight Exposure and a Key Genetic Alteration in Basal Cell Carcinoma
Gailani M, Leffell D, Ziegler A, Gross E, Brash D, Bale A. Relationship Between Sunlight Exposure and a Key Genetic Alteration in Basal Cell Carcinoma. Journal Of The National Cancer Institute 1996, 88: 349-354. PMID: 8609643, DOI: 10.1093/jnci/88.6.349.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaLoss of heterozygosityCell carcinomaP53 geneSunlight exposureExact testGenetic alterationsPathogenesis of BCCSun-exposed areasFrequency of LOHMohs micrographic surgical techniqueEnvironmental agentsLocation of tumorFisher's exact testSkin cancer patientsKey genetic alterationsUVB radiationChi-squared analysisFrequent genetic alterationsLimited associationSpecific environmental agentsBCC incidenceTumor characteristicsCancer patientsCommon cancer
1995
The Gorlin syndrome gene: a tumor suppressor active in basal cell carcinogenesis and embryonic development.
Bale A, Gailani M, Leffell D. The Gorlin syndrome gene: a tumor suppressor active in basal cell carcinogenesis and embryonic development. Proceedings Of The Association Of American Physicians 1995, 107: 253-7. PMID: 8624861.Peer-Reviewed Original Research
1993
Cutaneous malignant melanoma and atypical moles associated with a constitutional rearrangement of chromosomes 5 and 9
Petty E, Bolognia J, Bale A, Yang‐Feng T. Cutaneous malignant melanoma and atypical moles associated with a constitutional rearrangement of chromosomes 5 and 9. American Journal Of Medical Genetics 1993, 45: 77-80. PMID: 8418665, DOI: 10.1002/ajmg.1320450119.Peer-Reviewed Case Reports and Technical NotesConceptsHereditary cutaneous malignant melanomaCutaneous malignant melanomaMalignant melanomaMultiple primary melanomasMelanoma tumor tissuesUnbalanced reciprocal translocationPrimary melanomaFamily historyTumor tissueMelanomaCell linesLarge kindredChromosome 9pKindredsReciprocal translocationMolecular studiesShort armNumerous studiesChromosome 5
1992
Assignment of a Locus for Familial Melanoma, MLM, to Chromosome 9p13-p22
Cannon-Albright L, Goldgar D, Meyer L, Lewis C, Anderson D, Fountain J, Hegi M, Wiseman R, Petty E, Bale A, Olopade O, Diaz M, Kwiatkowski D, Piepkorn M, Zone J, Skolnick M. Assignment of a Locus for Familial Melanoma, MLM, to Chromosome 9p13-p22. Science 1992, 258: 1148-1152. PMID: 1439824, DOI: 10.1126/science.1439824.Peer-Reviewed Original ResearchConceptsMelanoma susceptibility locusSusceptibility lociFamilial melanoma susceptibilityInterferon alpha genesFamilial melanomaMultipoint linkage analysisShort tandem repeat markersRepeat markersTandem repeat markersChromosomal regionsGenetic markersLinkage analysisLociSomatic lossMelanoma susceptibilityMelanoma tumorsGermline deletionChromosome 9p21Maximum location scoreHomozygous deletionCritical roleCandidate regionsDeletionUtah kindredsChromosomes