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Characteristics of the Danish families with multiple endocrine neoplasia type 1.
Mol Cell Endocrinol. 2006 Apr 25; 249(1-2):123-32.MC

Abstract

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.

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Authors+Show Affiliations

Jäger AC
Department of Clinical Biochemistry, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.
Friis-Hansen L
No affiliation info available
Hansen TV
No affiliation info available
Eskildsen PC
No affiliation info available
Sølling K
No affiliation info available
Knigge U
No affiliation info available
Hansen CP
No affiliation info available
Andersen PH
No affiliation info available
Brixen K
No affiliation info available
Feldt-Rasmussen U
No affiliation info available
Kroustrup JP
No affiliation info available
Mollerup CL
No affiliation info available
Rehfeld JF
No affiliation info available
Blichert-Toft M
No affiliation info available
Nielsen FC
No affiliation info available

MeSH

Amino Acid SequenceDenmarkFemaleGenetic TestingHaplotypesHumansHyperparathyroidism, PrimaryMaleMolecular Sequence DataMultiple Endocrine Neoplasia Type 1MutationPolymorphism, GeneticProto-Oncogene ProteinsSequence Alignment

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16563611

Citation

Jäger, Anne Charlotte, et al. "Characteristics of the Danish Families With Multiple Endocrine Neoplasia Type 1." Molecular and Cellular Endocrinology, vol. 249, no. 1-2, 2006, pp. 123-32.
Jäger AC, Friis-Hansen L, Hansen TV, et al. Characteristics of the Danish families with multiple endocrine neoplasia type 1. Mol Cell Endocrinol. 2006;249(1-2):123-32.
Jäger, A. C., Friis-Hansen, L., Hansen, T. V., Eskildsen, P. C., Sølling, K., Knigge, U., Hansen, C. P., Andersen, P. H., Brixen, K., Feldt-Rasmussen, U., Kroustrup, J. P., Mollerup, C. L., Rehfeld, J. F., Blichert-Toft, M., & Nielsen, F. C. (2006). Characteristics of the Danish families with multiple endocrine neoplasia type 1. Molecular and Cellular Endocrinology, 249(1-2), 123-32.
Jäger AC, et al. Characteristics of the Danish Families With Multiple Endocrine Neoplasia Type 1. Mol Cell Endocrinol. 2006 Apr 25;249(1-2):123-32. PubMed PMID: 16563611.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Characteristics of the Danish families with multiple endocrine neoplasia type 1. AU - Jäger,Anne Charlotte, AU - Friis-Hansen,Lennart, AU - Hansen,Thomas V O, AU - Eskildsen,Peter C, AU - Sølling,Karsten, AU - Knigge,Ulrich, AU - Hansen,Carsten P, AU - Andersen,Per H, AU - Brixen,Kim, AU - Feldt-Rasmussen,Ulla, AU - Kroustrup,Jens Peter, AU - Mollerup,Charlotte L, AU - Rehfeld,Jens F, AU - Blichert-Toft,Mogens, AU - Nielsen,Finn C, Y1 - 2006/03/23/ PY - 2005/07/06/received PY - 2006/02/07/revised PY - 2006/02/09/accepted PY - 2006/3/28/pubmed PY - 2006/7/22/medline PY - 2006/3/28/entrez SP - 123 EP - 32 JF - Molecular and cellular endocrinology JO - Mol Cell Endocrinol VL - 249 IS - 1-2 N2 - 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. SN - 0303-7207 UR - https://www.unboundmedicine.com/medline/citation/16563611/Characteristics_of_the_Danish_families_with_multiple_endocrine_neoplasia_type_1_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0303-7207(06)00078-5 DB - PRIME DP - Unbound Medicine ER -