PMID- 9709922
OWN - NLM
STAT- MEDLINE
DCOM- 19980902
LR  - 20061115
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 83
IP  - 8
DP  - 1998 Aug
TI  - Alterations of the MEN1 gene in sporadic parathyroid tumors.
PG  - 2627-30
AB  - Primary hyperparathyroidism is a common endocrine disease that also occurs in a 
      number of inherited disorders, including multiple endocrine neoplasia type 1 
      (MEN1). Loss of heterozygosity (LOH) in the MEN1 region on chromosome 11q13 has 
      been found in 30% of sporadic parathyroid tumors, making the recently cloned MEN1 
      gene a prime candidate for involvement in parathyroid tumorigenesis. Using LOH 
      and single strand conformation analysis, we screened 45 sporadic tumors from 40 
      patients for alterations involving the MEN1 gene. Thirteen tumors showed LOH at 
      11q13, and in 6 of these cases, somatic mutation of the MEN1 gene was detected. 
      In tumors without LOH, no mutations were detected. The mutations consisted of 3 
      small deletions, 1 insertion, and 2 missense mutations that had not been reported 
      in MEN1 patients or parathyroid tumors previously. Using messenger ribonucleic 
      acid in situ hybridization, the expression of the MEN1 gene was studied. There 
      was no difference in expression between normal and tumor tissue. In conclusion, 
      the findings of inactivating mutation in tumors with LOH at 11q13 confirm the 
      role of the MEN1 tumor suppressor gene in a subset of sporadic parathyroid 
      tumors.
FAU - Farnebo, F
AU  - Farnebo F
AD  - Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
FAU - Teh, B T
AU  - Teh BT
FAU - Kytola, S
AU  - Kytola S
FAU - Svensson, A
AU  - Svensson A
FAU - Phelan, C
AU  - Phelan C
FAU - Sandelin, K
AU  - Sandelin K
FAU - Thompson, N W
AU  - Thompson NW
FAU - Hoog, A
AU  - Hoog A
FAU - Weber, G
AU  - Weber G
FAU - Farnebo, L O
AU  - Farnebo LO
FAU - Larsson, C
AU  - Larsson C
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (RNA, Messenger)
SB  - IM
CIN - J Clin Endocrinol Metab. 1998 Aug;83(8):2617-20. PMID: 9709920
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Autoradiography
MH  - Chromosomes, Human, Pair 11
MH  - Female
MH  - Humans
MH  - In Situ Hybridization
MH  - Loss of Heterozygosity
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - *Mutation
MH  - Parathyroid Neoplasms/*genetics
MH  - Polymorphism, Single-Stranded Conformational
MH  - RNA, Messenger/analysis
EDAT- 1998/08/26 00:00
MHDA- 1998/08/26 00:01
CRDT- 1998/08/26 00:00
PHST- 1998/08/26 00:00 [pubmed]
PHST- 1998/08/26 00:01 [medline]
PHST- 1998/08/26 00:00 [entrez]
AID - 10.1210/jcem.83.8.4846 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 1998 Aug;83(8):2627-30. doi: 10.1210/jcem.83.8.4846.