Multiple endocrine neoplasia type 1 (MEN1): clinical heterogeneity in a large family with a nonsense mutation in the MEN1 gene (Trp471Stop)

Familial multiple endocrine neoplasia type 1 (MEN1) is an hereditary dominant trait characterized by tumours of the parathyroids, anterior pituitary and endocrine pancreatic glands, among others. The MEN1 gene has recently been cloned, and MEN1‐mutations have been identified in several families as well as in a number of sporadic cases. The aim of this study was to search for mutations in a large MEN1‐family in order to define the clinical heterogeneity among mutation‐carriers. We also analysed DNA from several tumour tissues in order to test the ‘two hit’ model for inactivation of the MEN1 gene.

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