Searchable abstracts of presentations at key conferences in endocrinology

ea0032s31.2 | Clinical impact of rare mutations in endocrinology | ECE2013

Old and new MEN1 mutations

Calender Pr Alain

Multiple endocrine neoplasia type 1 (MEN1 – OMIM 131100) is considered as the major hereditary syndrome predisposing to multifocal endocrine tumors and a broad spectrum of non-endocrine lesions. Since the cloning of the MEN1 gene in 1997, a large number of studies have shown the large diversity of germline mutations found in patients with a poor genotype – phenotype correlation. Menin, the protein encoded by the MEN1 gene interacts with more than 30 nuclear/cellular ...