2020
A case of acute myeloid leukemia with unusual germline CEBPA mutation: lessons learned about mutation detection, location, and penetrance
Mendoza H, Chen PH, Pine AB, Siddon AJ, Bale AE, Gowda L, Killie A, Richards J, Varin-Tremblay C, Kloss R, Podoltsev NA. A case of acute myeloid leukemia with unusual germline CEBPA mutation: lessons learned about mutation detection, location, and penetrance. Leukemia & Lymphoma 2020, 62: 1251-1254. PMID: 33345654, DOI: 10.1080/10428194.2020.1861276.Peer-Reviewed Case Reports and Technical Notes
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
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
1999
Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children
Heptulla R, Schwartz R, Bale A, Flynn S, Genel M. Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children. The Journal Of Pediatrics 1999, 135: 327-331. PMID: 10484798, DOI: 10.1016/s0022-3476(99)70129-0.Peer-Reviewed Original ResearchConceptsMedullary thyroid carcinomaFamilial medullary thyroid carcinomaRET geneLymph node metastasisMutation-positive family membersC-cell hyperplasiaEvidence of pathologyDecades of lifeFamily membersGenotype-phenotype correlationCodon 618Node metastasisProvocative testingClinical spectrumCodon 804Extracellular cysteine-rich regionPathologic manifestationsThyroid carcinomaNormal responseGenetic testingCarcinomaChildrenPresymptomatic diagnosisExon 14Microscopic evidence