PMID- 10715991
OWN - NLM
STAT- MEDLINE
DCOM- 20000323
LR  - 20041117
IS  - 0039-6060 (Print)
IS  - 0039-6060 (Linking)
VI  - 127
IP  - 3
DP  - 2000 Mar
TI  - Somatic mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in 
      patients with sporadic, nonfamilial primary hyperparathyroidism.
PG  - 337-41
AB  - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN 1) is a syndrome with tumors 
      of many endocrine tissues. Germline MEN1 gene mutations were found in most 
      patients with familial or sporadic MEN 1. Recently, somatic MEN1 gene mutations 
      were also detected in sporadic non-MEN 1 endocrine tumors. METHODS: We used 
      direct sequence analysis to investigate MEN1 gene mutations in 30 parathyroid 
      tumors obtained from 30 patients with sporadic, nonfamilial primary 
      hyperparathyroidism. RESULTS: Four patients had somatic mutations of the MEN1 
      gene, comprising 1 small insertion (1091insAGC), one missense mutation (G42S), 
      and 2 non-sense mutations (E388X, R460X). Identical missense and non-sense 
      mutations were found in patients with familial and non-familial MEN 1. There were 
      no differences between clinical features of patients with and without MEN1 gene 
      mutations. CONCLUSIONS: The incidence of somatic MEN1 gene mutations (13.3%) in 
      Japanese patients with sporadic, nonfamilial primary hyperparathyroidism is 
      almost equal to those of such patients in the United States and Sweden. 
      Occasionally, the MEN1 gene mutation sites in sporadic parathyroid tumors are 
      identical to those reported in tumors from patients with familial or sporadic MEN 
      1.
FAU - Sato, K
AU  - Sato K
AD  - Department of Medicine, Tokyo Women's Medical University, Japan.
FAU - Yamazaki, K
AU  - Yamazaki K
FAU - Zhu, H
AU  - Zhu H
FAU - Kanbe, M
AU  - Kanbe M
FAU - Iihara, M
AU  - Iihara M
FAU - Wada, Y
AU  - Wada Y
FAU - Tanaka, R
AU  - Tanaka R
FAU - Okamoto, T
AU  - Okamoto T
FAU - Ito, Y
AU  - Ito Y
FAU - Obara, T
AU  - Obara T
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Surgery
JT  - Surgery
JID - 0417347
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - DNA/chemistry
MH  - Humans
MH  - Hyperparathyroidism/*genetics
MH  - Introns
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Neoplasm Proteins/*genetics
MH  - *Point Mutation
MH  - Polymorphism, Genetic
MH  - *Proto-Oncogene Proteins
EDAT- 2000/03/15 09:00
MHDA- 2000/03/25 09:00
CRDT- 2000/03/15 09:00
PHST- 2000/03/15 09:00 [pubmed]
PHST- 2000/03/25 09:00 [medline]
PHST- 2000/03/15 09:00 [entrez]
AID - S0039-6060(00)14386-7 [pii]
AID - 10.1067/msy.2000.104165 [doi]
PST - ppublish
SO  - Surgery. 2000 Mar;127(3):337-41. doi: 10.1067/msy.2000.104165.