PMID- 9681842
OWN - NLM
STAT- MEDLINE
DCOM- 19980813
LR  - 20190905
IS  - 0954-6820 (Print)
IS  - 0954-6820 (Linking)
VI  - 243
IP  - 6
DP  - 1998 Jun
TI  - Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 
      (MEN1).
PG  - 447-53
AB  - Dideoxyfingerprinting was used to screen for germline and somatic MEN1 mutations. 
      This method, applied to a panel of germline DNA from 15 probands with multiple 
      endocrine neoplasia type 1 (MEN-1), allowed confident discovery of the MEN1 gene. 
      Germline MEN1 mutation has been found in 47 out of 50 probands with familial 
      MEN-1, in 7 out of 8 cases with sporadic MEN-1, and in 1 out of 3 cases with 
      atypical sporadic MEN-1. Germline MEN1 mutation was not found in any of five 
      probands with familial hyperparathyroidism. Somatic MEN1 mutations were found in 
      7 out of 33 parathyroid tumours not associated with MEN-1. Allowing for repeating 
      mutations, a total of 47 different germline or somatic MEN1 mutations have been 
      identified. Most predict inactivation of the encoded 'menin' protein. supporting 
      expectations that MEN1 is a tumour suppressor gene. The 16 observed missense 
      mutations were distributed across the gene, suggesting that many domains are 
      important to its as yet unknown functions.
FAU - Marx, S J
AU  - Marx SJ
AD  - Metabolic Diseases Branch, NIDDK, National Institutes of Health, Bethesda, MD 
      20892-1802, USA. StephenM@ambintra.niddk.nih.gov
FAU - Agarwal, S K
AU  - Agarwal SK
FAU - Kester, M B
AU  - Kester MB
FAU - Heppner, C
AU  - Heppner C
FAU - Kim, Y S
AU  - Kim YS
FAU - Emmert-Buck, M R
AU  - Emmert-Buck MR
FAU - Debelenko, L V
AU  - Debelenko LV
FAU - Lubensky, I A
AU  - Lubensky IA
FAU - Zhuang, Z
AU  - Zhuang Z
FAU - Guru, S C
AU  - Guru SC
FAU - Manickam, P
AU  - Manickam P
FAU - Olufemi, S E
AU  - Olufemi SE
FAU - Skarulis, M C
AU  - Skarulis MC
FAU - Doppman, J L
AU  - Doppman JL
FAU - Alexander, R H
AU  - Alexander RH
FAU - Liotta, L A
AU  - Liotta LA
FAU - Collins, F S
AU  - Collins FS
FAU - Chandrasekharappa, S C
AU  - Chandrasekharappa SC
FAU - Spiegel, A M
AU  - Spiegel AM
FAU - Burns, A L
AU  - Burns AL
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Intern Med
JT  - Journal of internal medicine
JID - 8904841
RN  - 0 (Codon)
RN  - 0 (DNA, Neoplasm)
SB  - IM
MH  - Codon/genetics
MH  - DNA, Neoplasm/genetics
MH  - Genes, Tumor Suppressor/genetics
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Hyperparathyroidism/genetics
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Parathyroid Neoplasms/genetics
EDAT- 1998/07/29 00:00
MHDA- 1998/07/29 00:01
CRDT- 1998/07/29 00:00
PHST- 1998/07/29 00:00 [pubmed]
PHST- 1998/07/29 00:01 [medline]
PHST- 1998/07/29 00:00 [entrez]
AID - 10.1046/j.1365-2796.1998.00348.x [doi]
PST - ppublish
SO  - J Intern Med. 1998 Jun;243(6):447-53. doi: 10.1046/j.1365-2796.1998.00348.x.