Multiple endocrine neoplasia type 1.

Journal article

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.

Authors: Thakker, R

• Publication status: Published
• Journal: Endocrinology and metabolism clinics of North America
• Volume: 29
• Issue: 3
• Pages: 541-567
• Publication date: 2000-09-01
• DOI: 10.1016/s0889-8529(05)70150-x
• EISSN: 1558-4410
• ISSN: 0889-8529
• Language: English
• Keywords: Pedigree; Humans; Amino Acid Substitution; Adult; Male; Proto-Oncogene Proteins; Multiple Endocrine Neoplasia Type 1; Genetic Screening; Neoplasm Proteins; Mutagenesis; Female