2017
Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients
Couto PP, Bastos-Rodrigues L, Schayek H, Melo FM, Lisboa RGC, Miranda DM, Vilhena A, Bale AE, Friedman E, De Marco L. Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients. Carcinogenesis 2017, 38: 1112-1118. PMID: 28968711, DOI: 10.1093/carcin/bgx089.Peer-Reviewed Original ResearchConceptsCell lung cancer patientsLung cancer patientsLung cancerSmoking statusCancer patientsWhole-exome sequencingGermline mutationsTP53 mutationsTP53 germline mutationsCell lung cancerCancer-related mortalityDistinct pathogenic mutationsMajor risk factorTumor-derived DNAMultiple cancer typesSmoker patientsGermline missense variantsNovel sequence variantsRisk factorsLeading causeR337H TP53 mutationLC pathogenesisSame patientLC casesPatients
2014
Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients
CARNEIRO JG, COUTO PG, BASTOS-RODRIGUES L, BICALHO MA, VIDIGAL PV, VILHENA A, AMARAL NF, BALE AE, FRIEDMAN E, DE MARCO L. Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients. Genetics Research 2014, 96: e002. PMID: 24594201, PMCID: PMC7045132, DOI: 10.1017/s0016672314000032.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedAged, 80 and overBrazilCarcinoma, Non-Small-Cell LungCarcinoma, Squamous CellCase-Control StudiesDNA-Binding ProteinsErbB ReceptorsFemaleGenetic Predisposition to DiseaseHumansImmunoenzyme TechniquesLung NeoplasmsMaleMiddle AgedMutationNeoplasm StagingPolymerase Chain ReactionPrognosisProto-Oncogene ProteinsProto-Oncogene Proteins B-rafProto-Oncogene Proteins p21(ras)PTEN PhosphohydrolaseRas ProteinsTranscription FactorsConceptsNon-small cell lung cancerSquamous cell carcinomaTTF-1 expressionLung cancerTTF-1PTEN mutationsBrazilian lung cancer patientsCancer typesPI3K pathway inhibitorsCell lung cancerCancer-related mortalityLung cancer patientsSomatic mutationsCommon somatic mutationsNSCLC patientsInter-individual variabilityCancer patientsEGFR mutationsTherapeutic responseBrazilian patientsHigh prevalenceKRAS mutationsLung adenocarcinomaSomatic EGFRTreatment response
2006
Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
Pejovic T, Yates JE, Liu HY, Hays LE, Akkari Y, Torimaru Y, Keeble W, Rathbun RK, Rodgers WH, Bale AE, Ameziane N, Zwaan CM, Errami A, Thuillier P, Cappuccini F, Olson SB, Cain JM, Bagby GC. Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer. Cancer Research 2006, 66: 9017-9025. PMID: 16982743, DOI: 10.1158/0008-5472.can-06-0222.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedChromosome BreakageDNA MethylationDNA, ComplementaryEpithelial CellsFanconi Anemia Complementation Group D2 ProteinFemaleGene SilencingGenes, BRCA1Genetic Predisposition to DiseaseGenomic InstabilityGerm-Line MutationHumansMiddle AgedMitomycinOvarian NeoplasmsOvaryPromoter Regions, GeneticReverse Transcriptase Polymerase Chain ReactionRNA, MessengerConceptsOvarian cancerMitomycin CBRCA2 mutationsOnset of carcinomaEpithelial cellsHigh-risk womenOvarian cancer patientsBRCA1 germ-line mutationsOvarian surface epithelial cellsSensitive screening strategyFamilial ovarian cancerOvarian epithelial cellsSurface epithelial cellsGerm-line mutationsCancer patientsFrequent findingNormal ovariesFamily historyHigh riskControl groupPatientsCancerCytogenetic instabilityPrimary culturesScreening strategy
2004
Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients
Choi DH, Lee MH, Bale AE, Carter D, Haffty BG. Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients. Journal Of Clinical Oncology 2004, 22: 1638-1645. PMID: 15117986, DOI: 10.1200/jco.2004.04.179.Peer-Reviewed Original ResearchConceptsBreast cancerOvarian cancerBRCA2 mutationsFamily historyYounger ageKorean breast cancer patientsKorean womenIncidence of BRCA1Breast cancer patientsAge 40 yearsPrevalence of BRCA1Paraffin-embedded tissue blocksKorean patientsPeripheral bloodCancer patientsEtiologic factorsP53 overexpressionBreast carcinomaImmunohistochemical stainingPatientsKorean populationBRCA genesCancerUnknown significanceCyclin D1
1996
Relationship 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