Multiple endocrine neoplasia type 1.
Combined clinical and laboratory investigations of MEN-1 have resulted in an increased understanding of this disorder, which may be inherited as an autosomal dominant condition. Defining the features of each disease manifestation in MEN-1 has improved patient management and treatment and has facilitated a screening protocol. Application of the techniques of molecular biology has enabled the identification of the gene causing MEN-1 and the detection of mutations in patients. The protein encoded by the MEN1 gene has been shown to be involved in the regulation of JunD-mediated transcription, but much still remains to be elucidated. Recent advances permit the identification of mutant MEN1 gene carriers who are at a high risk for this disorder and who require regular and biochemical screening to detect the development of endocrine tumors.
Thakker
R V
RV
Nuffield Department of Medicine, University of Oxford, John Radcliffe Hospital, England. rajesh.thakker@ndm.ox.ac.uk
D000328:Adult; D019943:Amino Acid Substitution; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics / Q000503:physiopathology*; D016296:Mutagenesis; D009363:Neoplasm Proteins / Q000235:genetics; D010375:Pedigree; D011518:Proto-Oncogene Proteins
C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins