2023
Advancing diagnosis and management of liver disease in adults through exome sequencing
Zheng M, Hakim A, Konkwo C, Deaton A, Ward L, Genetics A, Silveira M, Assis D, Liapakis A, Jaffe A, Jiang Z, Curry M, Lai M, Cho M, Dykas D, Bale A, Mistry P, Vilarinho S. Advancing diagnosis and management of liver disease in adults through exome sequencing. EBioMedicine 2023, 95: 104747. PMID: 37566928, PMCID: PMC10433007, DOI: 10.1016/j.ebiom.2023.104747.Peer-Reviewed Original ResearchConceptsLiver diseaseWhole-exome sequencingUnknown etiologyTertiary referral academic medical centerReferral academic medical centerExome sequencingLiver disease patientsManagement of adultsAcademic health care centerComprehensive clinical evaluationHealth care centersAcademic medical centerGenetic variantsRare genetic variantsAdult patientsLiver centersHepatic steatosisDisease patientsClinical evaluationCare centerFamily historyMedical CenterClinical valueAdult medicinePatientsFKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report
Wiegand A, Kastury R, Neogi A, Mani A, Bale A, Cox A. FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report. Molecular Case Studies 2023, 9: a006281. PMID: 37433679, PMCID: PMC10393184, DOI: 10.1101/mcs.a006281.Peer-Reviewed Original ResearchConceptsHereditary connective tissue disordersConnective tissue disordersKyphoscoliotic Ehlers-Danlos syndromeTissue disordersEhlers-Danlos syndromeLarsen syndromeClinical diagnosisGenetic testingHereditary cancer predisposition syndromesSignificant vascular eventsPremenopausal breast cancerPast medical historyHomozygous pathogenic variantCancer predisposition syndromeWhole-exome sequencingMolecular genetic testingCardiovascular eventsCarotid dissectionVascular eventsCardiovascular manifestationsCase reportMedical historyRecent diagnosisBreast cancerEarly diagnosis
2019
Clinical utility of genomic analysis in adults with idiopathic liver disease
Hakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Clinical utility of genomic analysis in adults with idiopathic liver disease. Journal Of Hepatology 2019, 70: 1214-1221. PMID: 31000363, PMCID: PMC6526061, DOI: 10.1016/j.jhep.2019.01.036.Peer-Reviewed Original ResearchConceptsIdiopathic liver diseaseUnexplained liver diseaseManagement of adultsWhole-exome sequencingLiver diseaseAdult patientsUnknown etiologyHeterozygous variantsUse of WESAmelioration of dyslipidemiaDaily insulin requirementLeptin replacement therapyUtility of WESChronic liver diseaseNon-alcoholic steatohepatitisAcademic health care centerHealth care centersHomozygous pathogenic variantUnrelated adult patientsNon-oncological diseasesDisease preventive measuresInsulin requirementsLean patientsDevastating complicationLiver aminotransferases
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 casesPatientsPredictors 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 colorParticipantsCarcinomaApplication of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults
Seidelmann SB, Smith E, Subrahmanyan L, Dykas D, Abou Ziki MD, Azari B, Hannah-Shmouni F, Jiang Y, Akar JG, Marieb M, Jacoby D, Bale AE, Lifton RP, Mani A. Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults. Circulation Genomic And Precision Medicine 2017, 10: e001573. PMID: 28087566, PMCID: PMC5245580, DOI: 10.1161/circgenetics.116.001573.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingSudden cardiac deathCardiovascular diseaseClinical diagnosisExome sequencingCardiac deathInherited cardiovascular diseaseCentre of careNovel candidate genesValuable screening toolAdult patientsRisk stratificationPrimary insultCardiac functionGenetic testingScreening toolDiagnosisCVD genesGenetic causeCardiovascular geneticsGenetic panelSuccess rateExome databasesPotential disease associationsPatients
2016
Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations
ZIAI J, MATLOFF E, CHOI J, KOMBO N, MATERIN M, BALE AE. Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations. Genetics Research 2016, 98: e5. PMID: 26947005, PMCID: PMC6865171, DOI: 10.1017/s0016672316000021.Peer-Reviewed Original ResearchConceptsMixed polyposisExtensive genetic testingComprehensive clinical evaluationColorectal cancer phenotypeCancer phenotypeHereditary colon cancerAutosomal dominant conditionClinical evaluationAshkenazi patientsColon cancer phenotypeColon cancerJuvenile polypsJewish patientsAshkenazi Jewish familiesGenetic testingPolyposisPatientsDominant conditionColon cancer genesPrevious reportsPhenotypeCancer genesManagement recommendations
2014
Systemic 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 ResearchSpectrum 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
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 color
2008
Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the ovarian cancer association consortium pooled analysis
Pearce CL, Wu AH, Gayther SA, Bale AE, Beck P, Beesley J, Chanock S, Cramer D, DiCioccio R, Edwards R, Fredericksen Z, Garcia-Closas M, Goode E, Green A, Hartmann L, Hogdall E, Kjær S, Lissowska J, McGuire V, Modugno F, Moysich K, Ness R, Ramus S, Risch H, Sellers T, Song H, Stram D, Terry K, Webb P, Whiteman D, Whittemore A, Zheng W, Pharoah P, Chenevix-Trench G, Pike M, Schildkraut J, Berchuck A, on behalf of the Ovarian Cancer Association Consortium (OCAC). Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the ovarian cancer association consortium pooled analysis. British Journal Of Cancer 2008, 98: 282-288. PMID: 18219286, PMCID: PMC2361465, DOI: 10.1038/sj.bjc.6604170.Peer-Reviewed Original ResearchConceptsEndometrioid ovarian cancerOvarian cancer riskProgesterone receptor geneCase-control studyOvarian cancerCancer riskSingle nucleotide polymorphismsPGR single-nucleotide polymorphismInvasive epithelial ovarian cancerOvarian cancer case-control studiesEpithelial ovarian cancerUnconditional logistic regressionCancer case-control studyOvarian cancer casesOvarian Cancer Association ConsortiumTwo-sided p valueEndometrioid subtypePROGINS alleleCancer casesBorderline evidencePROGINS variantSubtype analysisSignificant associationT variantCancer
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 strategyPGR +331 A/G and Increased Risk of Epithelial Ovarian Cancer
Risch HA, Bale AE, Beck PA, Zheng W. PGR +331 A/G and Increased Risk of Epithelial Ovarian Cancer. Cancer Epidemiology Biomarkers & Prevention 2006, 15: 1738-1741. PMID: 16985038, DOI: 10.1158/1055-9965.epi-06-0272.Peer-Reviewed Original ResearchConceptsOvarian cancerA allelePostmenopausal womenProgesterone receptor gene polymorphismHistologic tumor typePopulation-based studyEpithelial ovarian cancerEffect of progesteroneReceptor gene polymorphismsPremenopausal womenEndometrial cancerMenopausal statusOral contraceptivesOvarian neoplasiaProgesterone receptorProgestin exposureG genotypeGG genotypeGene polymorphismsTumor typesReceptor isoformsCancerWomenRiskProgesterone
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
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
2003
BRCA Status, Molecular Markers, and Clinical Variables in Early, Conservatively Managed Breast Cancer
Kim S, Rimm D, Carter D, Khan A, Parisot N, Franco MA, Bale A, Haffty BG. BRCA Status, Molecular Markers, and Clinical Variables in Early, Conservatively Managed Breast Cancer. The Breast Journal 2003, 9: 167-174. PMID: 12752624, DOI: 10.1046/j.1524-4741.2003.09307.x.Peer-Reviewed Original ResearchMeSH KeywordsAdultBiomarkers, TumorBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCohort StudiesFemaleGenetic Predisposition to DiseaseHumansImmunohistochemistryMutationNeoplasm Recurrence, LocalPremenopauseProliferating Cell Nuclear AntigenReceptor, ErbB-2Receptors, EstrogenReceptors, ProgesteroneTumor Suppressor Protein p53ConceptsHER-2/neuEstrogen receptorProgesterone receptorBRCA-1BRCA-2Breast cancerBRCA mutationsProliferating Cell Nuclear AntigenMolecular biologic markersPremenopausal breast cancerBRCA-1 mutationsBreast-conserving surgeryWide local excisionBreast cancer patientsPrimary breast tumor tissuesAvailable paraffin blocksBRCA-2 genesBreast tumor tissuesFamilial breast cancerCell nuclear antigenAxillary dissectionPR negativityPremenopausal womenLocal relapseSystemic therapy
2002
Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status
Haffty BG, Harrold E, Khan AJ, Pathare P, Smith TE, Turner BC, Glazer PM, Ward B, Carter D, Matloff E, Bale AE, Alvarez-Franco M. Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status. The Lancet 2002, 359: 1471-1477. PMID: 11988246, DOI: 10.1016/s0140-6736(02)08434-9.Peer-Reviewed Original ResearchConceptsSecond primary tumorsContralateral breast cancerBreast cancerPrimary tumorBRCA1/2 statusEarly-stage breast cancerYoung womenEarly-onset breast cancerBreast-conserving therapyAge 42 yearsBreast-conserving surgeryLong-term riskGermline BRCA1/2 statusUnderwent lumpectomyPrimary endpointBilateral mastectomySecond cancersSecond tumorContralateral eventsProphylactic agentHigh riskOutcome dataGenetic predispositionSporadic diseaseCancer