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.
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 -