2012
MEN1 gene mutations with different phenotypic presentations in two families: Is it a time to grade MEN1 mutations as high-risk and low-risk?
Shifrin A, Bale A, Dykas D, Fay A, Belitsis K, Fomin S, Lann D, Villanueva R, Zheng M, Govil S, Erler B, Matulewicz T, Topilow A, Krasna M, Vernick J. MEN1 gene mutations with different phenotypic presentations in two families: Is it a time to grade MEN1 mutations as high-risk and low-risk? Journal Of Clinical Oncology 2012, 30: 1540-1540. DOI: 10.1200/jco.2012.30.15_suppl.1540.Peer-Reviewed Original ResearchPancreatic endocrine tumorsMEN1 gene mutationsPrimary hyperparathyroidismFamilial Isolated HyperparathyroidismGenotype-phenotype correlationGene mutationsPhenotypic presentationDifferent phenotypic presentationsExon 7 mutationsMalignant gastrinomaThymic carcinomaTotal pancreatectomySurgical treatmentEndocrine tumorsPituitary adenomasMEN1 syndromeSyndrome resultsClinical phenotypeAge 32Grading systemMEN1 mutationsEarly onsetDiagnostic testsAge 79Codon 103
2005
Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory
Klein RD, Salih S, Bessoni J, Bale AE. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genetics In Medicine 2005, 7: 131-138. PMID: 15714081, DOI: 10.1097/01.gim.0000153663.62300.f8.Peer-Reviewed Original ResearchConceptsPituitary tumorsSporadic patientsIslet neoplasiaMEN1 mutationsMultiple endocrine neoplasia type 1Islet cell neoplasiaMEN1 genePancreatic islet tumorsFrameshift deletion mutationClinical featuresSomatic mosaicismPancreatic neoplasmsCell neoplasiaHyperparathyroidismBlood samplesPatientsClinical testingIslet tumorsSporadic casesType 1TumorsFamilial casesNeoplasiaSplice site mutationDNA diagnostic laboratories