PMID- 16563611
OWN - NLM
STAT- MEDLINE
DCOM- 20060721
LR  - 20091119
IS  - 0303-7207 (Print)
IS  - 0303-7207 (Linking)
VI  - 249
IP  - 1-2
DP  - 2006 Apr 25
TI  - Characteristics of the Danish families with multiple endocrine neoplasia type 1.
PG  - 123-32
AB  - 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.
FAU - Jager, Anne Charlotte
AU  - Jager AC
AD  - Department of Clinical Biochemistry, Rigshospitalet, Blegdamsvej 9, DK-2100 
      Copenhagen, Denmark.
FAU - Friis-Hansen, Lennart
AU  - Friis-Hansen L
FAU - Hansen, Thomas V O
AU  - Hansen TV
FAU - Eskildsen, Peter C
AU  - Eskildsen PC
FAU - Solling, Karsten
AU  - Solling K
FAU - Knigge, Ulrich
AU  - Knigge U
FAU - Hansen, Carsten P
AU  - Hansen CP
FAU - Andersen, Per H
AU  - Andersen PH
FAU - Brixen, Kim
AU  - Brixen K
FAU - Feldt-Rasmussen, Ulla
AU  - Feldt-Rasmussen U
FAU - Kroustrup, Jens Peter
AU  - Kroustrup JP
FAU - Mollerup, Charlotte L
AU  - Mollerup CL
FAU - Rehfeld, Jens F
AU  - Rehfeld JF
FAU - Blichert-Toft, Mogens
AU  - Blichert-Toft M
FAU - Nielsen, Finn C
AU  - Nielsen FC
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20060323
PL  - Ireland
TA  - Mol Cell Endocrinol
JT  - Molecular and cellular endocrinology
JID - 7500844
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Amino Acid Sequence
MH  - Denmark/ethnology
MH  - Female
MH  - Genetic Testing
MH  - Haplotypes
MH  - Humans
MH  - Hyperparathyroidism, Primary/genetics
MH  - Male
MH  - Molecular Sequence Data
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics
MH  - Mutation
MH  - Polymorphism, Genetic
MH  - Proto-Oncogene Proteins/*genetics
MH  - Sequence Alignment
EDAT- 2006/03/28 09:00
MHDA- 2006/07/22 09:00
CRDT- 2006/03/28 09:00
PHST- 2005/07/06 00:00 [received]
PHST- 2006/02/07 00:00 [revised]
PHST- 2006/02/09 00:00 [accepted]
PHST- 2006/03/28 09:00 [pubmed]
PHST- 2006/07/22 09:00 [medline]
PHST- 2006/03/28 09:00 [entrez]
AID - S0303-7207(06)00078-5 [pii]
AID - 10.1016/j.mce.2006.02.008 [doi]
PST - ppublish
SO  - Mol Cell Endocrinol. 2006 Apr 25;249(1-2):123-32. doi: 10.1016/j.mce.2006.02.008. 
      Epub 2006 Mar 23.