PMID- 15894711
OWN - NLM
STAT- MEDLINE
DCOM- 20050715
LR  - 20050609
IS  - 0368-2811 (Print)
IS  - 0368-2811 (Linking)
VI  - 35
IP  - 5
DP  - 2005 May
TI  - A novel germline mutation, 1793delG, of the MEN1 gene underlying multiple 
      endocrine neoplasia type 1.
PG  - 280-2
AB  - Pulmonary carcinoids are rare neuroendocrine tumors which comprise 1-2% of all 
      lung tumors. They usually occur sporadically; however, their association with 
      multiple endocrine neoplasia type 1 (MEN1) syndrome has been documented. We 
      report a case of a Thai woman with a pulmonary carcinoid tumor and a null cell 
      pituitary tumor. Her family history was unremarkable for any MEN-related lesions. 
      Genetic testing revealed a novel deletion mutation at exon 10 (1793delG) of the 
      MEN1 gene, resulting in a stop codon 26 amino acids downstream. This mutation is 
      predicted to cause a loss of the second nuclear localization signal of the menin 
      protein.
FAU - Snabboon, Thiti
AU  - Snabboon T
AD  - Department of Internal Medicine, Faculty of Medicine, Chulalongkorn University, 
      Patumwan, Bangkok 10330, Thailand. fmedtsb@md.chula.ac.th
FAU - Plengpanich, Wanee
AU  - Plengpanich W
FAU - Siriwong, Sathapakorn
AU  - Siriwong S
FAU - Wisedopas, Naruemon
AU  - Wisedopas N
FAU - Suwanwalaikorn, Sompongse
AU  - Suwanwalaikorn S
FAU - Khovidhunkit, Weerapan
AU  - Khovidhunkit W
FAU - Shotelersuk, Vorasuk
AU  - Shotelersuk V
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20050513
PL  - England
TA  - Jpn J Clin Oncol
JT  - Japanese journal of clinical oncology
JID - 0313225
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Carcinoid Tumor/*genetics
MH  - Female
MH  - Genes, Tumor Suppressor
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Lung Neoplasms/*genetics
MH  - Lymphocytes, Null
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pedigree
MH  - Pituitary Neoplasms/genetics
MH  - Proto-Oncogene Proteins/*genetics
EDAT- 2005/05/17 09:00
MHDA- 2005/07/16 09:00
CRDT- 2005/05/17 09:00
PHST- 2005/05/17 09:00 [pubmed]
PHST- 2005/07/16 09:00 [medline]
PHST- 2005/05/17 09:00 [entrez]
AID - hyi080 [pii]
AID - 10.1093/jjco/hyi080 [doi]
PST - ppublish
SO  - Jpn J Clin Oncol. 2005 May;35(5):280-2. doi: 10.1093/jjco/hyi080. Epub 2005 May 
      13.