2021
Endometrial Carcinoma as the Presenting Malignancy in a Teenager With a Pathogenic TP53 Germline Mutation: A Case Report and Literature Review
Irshaid L, Clark M, Fadare O, Finberg KE, Parkash V. Endometrial Carcinoma as the Presenting Malignancy in a Teenager With a Pathogenic TP53 Germline Mutation: A Case Report and Literature Review. International Journal Of Gynecological Pathology 2021, 41: 258-267. PMID: 33990091, DOI: 10.1097/pgp.0000000000000792.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentEndometrial NeoplasmsFemaleGenes, p53Genetic Predisposition to DiseaseGerm-Line MutationHumansLi-Fraumeni SyndromeTumor Suppressor Protein p53ConceptsGermline TP53 mutationsEndometrial carcinomaTP53 mutationsGermline mutationsMissense substitution p.Predominant tumor typePremenopausal breast carcinomaAdrenal cortical tumorsTP53 geneTP53 germline mutationsSoft tissue sarcomasEndometrioid endometrial carcinomaEarly-onset malignanciesLi-Fraumeni syndromeAutosomal dominant disorderCortical tumorsPresenting tumourGynecologic malignanciesTissue sarcomasUterine carcinomaCase reportSpinal cordBreast carcinomaGrade 3Characteristic syndrome
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
2004
Mapping a Mendelian Form of Intracranial Aneurysm to 1p34.3-p36.13
Nahed BV, Seker A, Guclu B, Ozturk AK, Finberg K, Hawkins AA, DiLuna ML, State M, Lifton RP, Gunel M. Mapping a Mendelian Form of Intracranial Aneurysm to 1p34.3-p36.13. American Journal Of Human Genetics 2004, 76: 172-179. PMID: 15540160, PMCID: PMC1196421, DOI: 10.1086/426953.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge FactorsChromosome MappingChromosomes, Human, Pair 1FemaleGenetic LinkageGenetic Predisposition to DiseaseHumansIntracranial AneurysmLod ScoreMaleMiddle AgedPedigreePenetrancePolymorphism, Single NucleotideConceptsMendelian formsSimple tandem repeatsIdentification of pathwaysHigh penetranceSingle geneUnderlying genesSingle nucleotide polymorphismsSingle locusTandem repeatsCandidate intervalGenomewide studiesDisease locusAnalysis of linkageLOD scoreLociRare familiesSignificant linkageRelative pairsGenesDominant traitEnvironmental factorsLarge kindredPenetranceRepeatsTraits