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
1991
Allelic loss on chromosome 11 in hereditary and sporadic tumors related to familial multiple endocrine neoplasia type 1.
Bale A, Norton J, Wong E, Fryburg J, Maton P, Oldfield E, Streeten E, Aurbach G, Brandi M, Friedman E. Allelic loss on chromosome 11 in hereditary and sporadic tumors related to familial multiple endocrine neoplasia type 1. Cancer Research 1991, 51: 1154-7. PMID: 1671755.Peer-Reviewed Original ResearchConceptsFamilial multiple endocrine neoplasia type 1Multiple endocrine neoplasia type 1Anterior pituitary tumorsPancreatic islet tumorsIslet tumorsPituitary tumorsAllelic lossType 1Autosomal dominant disorderMalignant gastrinomaBronchial carcinoidParathyroid glandsParathyroid tumorsAnterior pituitaryLoss of heterozygosityTumorsPancreatic isletsSporadic tumorsDominant disorderMEN1 genePatientsRestriction fragment length polymorphismFragment length polymorphismHomozygous inactivationInformative restriction fragment length polymorphisms