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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Characteristics of the Danish families with multiple endocrine neoplasia type 1

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Multiple endocrine neoplasia type 1 (MEN1) is caused by autosomal dominantly inherited mutations in the MEN1 gene. Here, we report 25 MEN1 mutations - of which 12 are novel - found in 36 Danish families with MEN1 or variant MEN1 disease. Furthermore, one FIHP family was found to have an earlier reported mutation. The mutations were predominantly found in exons 9 and 10 encoding the C-terminal part of menin. Seven of the mutations were missense mutations, changing conserved residues. Furthermore screening of 93 out of 153 consecutive patients with primary hyperparathyroidism (pHPT) identified five mutation carriers. Two of these belonged to known MEN1 families, whereas the only MEN1-related disease in the other three was pHPT. Screening of 96 consecutive patients with fore-/midgut endocrine tumours revealed five mutation carries out of 28 patients with sporadic gastrinomas, whereas no mutations were found in 68 patients with other fore-/midgut endocrine tumours. Moreover, screening of 60 consecutive patients with primary prolactinoma did not identify any mutation carriers. Our data indicate that MEN1 mutation screening is efficient in patients with familial MEN1. Screening should also be offered to patients with pHPT or gastrinomas after thorough investigation into the family history. In contrast, sporadic carcinoid tumours or primary prolactinomas are rarely associated with germ-line MEN1 mutations.

Original languageEnglish
JournalMolecular and Cellular Endocrinology
Volume249
Issue number1-2
Pages (from-to)123-32
Number of pages10
ISSN0303-7207
DOIs
Publication statusPublished - 25 Apr 2006

    Research areas

  • Amino Acid Sequence, Denmark, Female, Genetic Testing, Haplotypes, Humans, Hyperparathyroidism, Primary, Male, Molecular Sequence Data, Multiple Endocrine Neoplasia Type 1, Mutation, Polymorphism, Genetic, Proto-Oncogene Proteins, Sequence Alignment

ID: 44963109