2021
Pathogenic BRCA2 germline variants in combined hepatocellular‐cholangiocarcinoma
Li H, Zhang X, Finberg KE, Walther Z, Jain D, Gibson J. Pathogenic BRCA2 germline variants in combined hepatocellular‐cholangiocarcinoma. Pathology International 2021, 72: 138-140. PMID: 34808016, DOI: 10.1111/pin.13188.Peer-Reviewed Original Research
2013
Fibrosis-Associated Single-Nucleotide Polymorphisms in TGFB1 and CAV1 Are Not Associated With the Development of Nephrogenic Systemic Fibrosis
Le LP, Garibyan L, Lara D, Finberg KE, Iafrate AJ, Duncan LM, Kay J, Nazarian RM. Fibrosis-Associated Single-Nucleotide Polymorphisms in TGFB1 and CAV1 Are Not Associated With the Development of Nephrogenic Systemic Fibrosis. American Journal Of Dermatopathology 2013, 35: 351-356. PMID: 23051628, DOI: 10.1097/dad.0b013e31826c5508.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedCase-Control StudiesCaveolin 1Chi-Square DistributionCodonContrast MediaFemaleFibrosisGadoliniumGene FrequencyGenetic Predisposition to DiseaseHumansIntronsMaleMiddle AgedMultivariate AnalysisNephrogenic Fibrosing DermopathyPhenotypePolymorphism, Single NucleotideRisk FactorsTransforming Growth Factor beta1ConceptsNephrogenic systemic fibrosisGadolinium-containing contrast agentsSingle nucleotide polymorphismsSystemic fibrosisDevelopment of NSFImpaired renal functionChronic kidney diseaseCohort of patientsSubset of patientsProgression of fibrosisRenal impairmentRenal functionKidney diseaseControl subjectsNSF casesHistological evidenceGenetic predispositionPatientsIntronic single nucleotide polymorphismOrgan systemsFibrosisGenotype frequenciesTGFB1Significant differencesDisease
2011
Clinicopathologic and Molecular Profiles of Microsatellite Unstable Barrett Esophagus-associated Adenocarcinoma
Farris AB, Demicco EG, Le LP, Finberg KE, Miller J, Mandal R, Fukuoka J, Cohen C, Gaissert HA, Zukerberg LR, Lauwers GY, Iafrate AJ, Mino-Kenudson M. Clinicopathologic and Molecular Profiles of Microsatellite Unstable Barrett Esophagus-associated Adenocarcinoma. The American Journal Of Surgical Pathology 2011, 35: 647-655. PMID: 21422910, DOI: 10.1097/pas.0b013e31820f18a2.Peer-Reviewed Original ResearchConceptsTumor-infiltrating lymphocytesSignet ring cellsMicrosatellite instabilityBarrett's esophagusSporadic microsatellite unstable colorectal cancersEpstein-Barr virus-encoded RNARing cellsHigh-level microsatellite instabilityOlder patient ageMicrosatellite-unstable colorectal cancersLack of benefitVirus-encoded RNAUnstable colorectal cancersHMLH1 promoter methylationAdjuvant therapyLymphovascular invasionOverall survivalPatient ageClinicopathologic featuresStudy cohortConventional adenocarcinomaMucinous componentColorectal cancerMean ageMedullary carcinoma
2007
Mucinous Differentiation Correlates with Absence of EGFR Mutation and Presence of KRAS Mutation in Lung Adenocarcinomas with Bronchioloalveolar Features
Finberg KE, Sequist LV, Joshi VA, Muzikansky A, Miller JM, Han M, Beheshti J, Chirieac LR, Mark EJ, Iafrate AJ. Mucinous Differentiation Correlates with Absence of EGFR Mutation and Presence of KRAS Mutation in Lung Adenocarcinomas with Bronchioloalveolar Features. Journal Of Molecular Diagnostics 2007, 9: 320-326. PMID: 17591931, PMCID: PMC1899415, DOI: 10.2353/jmoldx.2007.060182.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinoma, Bronchiolo-AlveolarAdenocarcinoma, MucinousAgedAged, 80 and overCell DifferentiationDisease ProgressionDNA Mutational AnalysisFemaleGene DosageGenes, erbB-1Genes, rasHumansIn Situ Hybridization, FluorescenceLung NeoplasmsMaleMiddle AgedMutationPrognosisRetrospective StudiesConceptsEpidermal growth factor receptor (EGFR) geneEGFR mutationsBronchioloalveolar carcinomaKRAS mutationsLung adenocarcinomaBronchioloalveolar featuresKRAS codon 12Mucinous patternNonmucinous tumorsClinical responseMucinous histologyMucinous tumorsGrowth factor receptor geneMucinous adenocarcinomaHistopathological featuresNonmucinous adenocarcinomaMucinous morphologyMucinous differentiationAdenocarcinomaFactor receptor geneCodon 12Kinase inhibitorsTumorsReceptor geneTKIs
1996
A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans
Günel M, Awad I, Finberg K, Anson J, Steinberg G, Batjer H, Kopitnik T, Morrison L, Giannotta S, Nelson-Williams C, Lifton R. A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans. New England Journal Of Medicine 1996, 334: 946-951. PMID: 8596595, DOI: 10.1056/nejm199604113341503.Peer-Reviewed Original ResearchConceptsCavernous malformationsCerebral cavernous malformationsSporadic casesFamilial diseaseSame mutationSporadic cavernous malformationsDevelopment of symptomsHispanic AmericansCerebral hemorrhageVascular diseaseAsymptomatic carriersHigh prevalenceClinical casesMalformationsDiseaseFounder mutationPatientsAge dependenceAffected membersKindredsMarkersMexican descentEthnic groupsMutationsSame allele