2017
Predictors of tanning dependence in white non‐Hispanic females and males
Cartmel B, Bale AE, Mayne ST, Gelernter JE, DeWan AT, Spain P, Leffell DJ, Pagoto S, Ferrucci LM. Predictors of tanning dependence in white non‐Hispanic females and males. Journal Of The European Academy Of Dermatology And Venereology 2017, 31: 1223-1228. PMID: 28129487, PMCID: PMC5522341, DOI: 10.1111/jdv.14138.Peer-Reviewed Original ResearchConceptsEarly-onset basal cell carcinomaCase-control studyBasal cell carcinomaWhite non-Hispanic femalesSymptoms of dependenceCell carcinomaNon-Hispanic femalesAlcohol dependenceMental disordersAppropriate interventionsHost factorsNon-HispanicsStatistical ManualMultivariate modelIndoor tanningSignificant predictorsOnline surveyFourth EditionPredictorsEuropean ancestryQuestionnaireEye openerEye colorParticipantsCarcinoma
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 aberrationsBasal 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
2005
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory
Klein RD, Dykas DJ, Bale AE. Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genetics In Medicine 2005, 7: 611-619. PMID: 16301862, DOI: 10.1097/01.gim.0000182879.57182.b4.Peer-Reviewed Original ResearchConceptsEarly-onset basal cell carcinomaBasal cell carcinomaCell carcinomaPTCH mutationsJaw cystsNevoid basal cell carcinoma syndromeCentral nervous system malformationsBasal cell carcinoma syndromeNervous system malformationsPeripheral blood leukocytesPTCH genePositive test resultsClinical featuresOvarian fibromaPathologic featuresCorpus callosumOcular abnormalitiesBlood leukocytesCarcinoma syndromeSystem malformationsPalmar pitsCleft lipClinical testingFalx cerebriCarcinoma
1999
Mutational Analyses of Candidate Genes in Human Squamous Cell Carcinomas
Petroianu A, Boson W, Bale A, Friedman E, De Marco L. Mutational Analyses of Candidate Genes in Human Squamous Cell Carcinomas. The Laryngoscope 1999, 109: 661-663. PMID: 10201760, DOI: 10.1097/00005537-199904000-00027.Peer-Reviewed Original ResearchConceptsSquamous cell carcinomaCell carcinomaPolymerase chain reactionPrimary squamous cell carcinomaHuman squamous cell carcinomaEvidence of mutationsPresence of mutationsCommon malignancyUnselected populationCarcinomaStudy designMajor causeChain reactionPatientsCandidate genesPatched geneMolecular mechanismsTumorigenesisMutationsSequence alterationsMalignancyConformational polymorphismTumorsGenesMortality
1997
Complications 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 membersChildrenComplicationsNeoplasmsClinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome
Kimonis V, Goldstein A, Pastakia B, Yang M, Kase R, DiGiovanna J, Bale A, Bale S. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. American Journal Of Medical Genetics 1997, 69: 299-308. PMID: 9096761, DOI: 10.1002/(sici)1096-8628(19970331)69:3<299::aid-ajmg16>3.0.co;2-m.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeMean ageCell carcinomaFirst tumorJaw cystsCarcinoma syndromePlantar pitsNumber of BCCsFalx cerebriPalmar/plantar pitsMultiple basal cell carcinomasAffected individualsAutosomal dominant disorderImportant radiological signsOvarian fibromaUS patientsClinical manifestationsPercent of whitesRadiological signsPhysical findingsBifid ribsSprengel's deformityRadiation therapy
1996
Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
Chidambaram A, Goldstein AM, Gailani MR, Gerrard B, Bale SJ, DiGiovanna JJ, Bale AE, Dean M. Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Research 1996, 56: 4599-601. PMID: 8840969.Peer-Reviewed Original ResearchConceptsNevoid basal cell carcinoma syndromeNBCCS patientsMultiple basal cell carcinomasNevoid basal cell carcinoma syndrome patientsBasal cell carcinoma syndromeMultisystem autosomal dominant disorderBasal cell carcinomaAutosomal dominant disorderOvarian fibromaCell carcinomaSuch tumorsSyndrome patientsCarcinoma syndromePlantar pitsOdontogenic keratocystsEctopic calcificationGorlin syndromeClinical phenotypeDevelopmental anomaliesSyndromePatientsDominant disorderIntrafamilial variabilityTumorsHuman homologueMolecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.
Shimkets R, Gailani M, Siu V, Yang-Feng T, Pressman C, Levanat S, Goldstein A, Dean M, Bale A. Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. American Journal Of Human Genetics 1996, 59: 417-22. PMID: 8755929, PMCID: PMC1914731.Peer-Reviewed Original ResearchConceptsGorlin syndromeGorlin syndrome patientsSyndrome patientsMultiple basal cell carcinomasConductive hearing lossBasal cell carcinomaAllelic lossCancer predisposition syndromeAutosomal dominant disorderGerm-line deletionOvarian fibromaSecond patientCell carcinomaHearing lossGroup AGroup CPatientsSyndromeDominant mutationsSignificant phenotypic variabilityGorlin syndrome geneDominant disorderNull mutationXeroderma pigmentosum group AIdentical alterationsRelationship 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
1994
Nevoid Basal Cell Carcinoma Syndrome
Bale A, Gailani M, Leffell D. Nevoid Basal Cell Carcinoma Syndrome. Journal Of Investigative Dermatology 1994, 103: s126-s130. DOI: 10.1038/jid.1994.23.Peer-Reviewed Original ResearchNevoid basal cell carcinoma syndrome.
Bale A, Gailani M, Leffell D. Nevoid basal cell carcinoma syndrome. Journal Of Investigative Dermatology 1994, 103: 126s-130s. PMID: 7963674, DOI: 10.1111/1523-1747.ep12399438.Peer-Reviewed Original ResearchConceptsOvarian fibromaCell carcinomaNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeHereditary basal cell carcinomasBasal cell carcinomaMultiple congenital anomaliesGerm-line mutationsAutosomal dominant disorderUnusual patientCongenital anomaliesCarcinoma syndromeTumor typesHereditary disorderTumor suppressor geneDominant disorderSporadic medulloblastomasAllelic lossClinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC)
Goldstein A, Pastakia B, Digiovanna J, Poliak S, Santucci S, Kase R, Bale A, Bale S. Clinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC). American Journal Of Medical Genetics 1994, 50: 272-281. PMID: 8042672, DOI: 10.1002/ajmg.1320500311.Peer-Reviewed Original Research
1992
Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9
Gailani M, Bale S, Leffell D, DiGiovanna J, Peck G, Poliak S, Drum M, Pastakia B, McBride O, Kase R, Greene M, Mulvihill J, Bale A. Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell 1992, 69: 111-117. PMID: 1348213, DOI: 10.1016/0092-8674(92)90122-s.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaSporadic basal cell carcinomasCell carcinomaLoss of heterozygosityGorlin syndromeHereditary tumorsTumor suppressor geneHereditary basal cell carcinomasMultiple congenital anomaliesSuppressor geneAutosomal dominant disorderOvarian fibromaCongenital anomaliesCarcinomaGermline mutationsHereditary disorderPutative tumor suppressor geneDevelopmental defectsSyndromeGorlin syndrome geneDominant disorderAllelic lossGenetic linkage studiesTumorsTumor suppressor