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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.

Type

Journal article

Journal

Endocrinol Metab Clin North Am

Publication Date

09/2000

Volume

29

Pages

541 - 567

Keywords

Adult, Amino Acid Substitution, Female, Genetic Testing, Humans, Male, Multiple Endocrine Neoplasia Type 1, Mutagenesis, Neoplasm Proteins, Pedigree, Proto-Oncogene Proteins