PMID- 11740047
OWN - NLM
STAT- MEDLINE
DCOM- 20020321
LR  - 20191105
IS  - 1046-3976 (Print)
IS  - 1046-3976 (Linking)
VI  - 12
IP  - 3
DP  - 2001 Fall
TI  - The MEN1 gene and associated diseases: an update.
PG  - 259-73
AB  - Heterozygous germline mutations of the tumor suppressor gene MEN1 are responsible 
      for multiple endocrine neoplasia type 1 (MEN1), a dominantly inherited familial 
      cancer syndrome characterized by the combined occurrence of pituitary, 
      parathyroid, and enteropancreatic tumors. Various types of mutations likely 
      causing loss of the gene function have been identified throughout the entire gene 
      region in patients with MEN1 and related disorders including a small fraction of 
      familial isolated hyperparathyroidism (FIHP). Neither mutation hot spot nor 
      phenotype-genotype correlation has been established in classical MEN1, although 
      some missense mutations may be specifically associated with a phenotype of FIHP. 
      Familial isolated pituitary tumor and atypical familial MEN1 consisting of only 
      pituitary tumor and hyperparathyroidism usually lack germline MEN1 mutations, 
      suggesting that these familial endocrine tumor syndromes are genetic entities 
      distinct from MEN1. DNA test for MEN1 germline mutations is a robust tool for 
      diagnosis of predisposition to MEN1, and will be useful for the counseling and 
      management of patients and their families. In this review, we will summarize the 
      most recent findings on the MEN1 gene, focusing primarily on germline mutations 
      and associated diseases.
FAU - Tsukada, T
AU  - Tsukada T
AD  - Growth Factor Division, National Cancer Center Research Institute, 5-1-1 Tsukiji, 
      Chuo-ku, Tokyo 104-0045, Japan.
FAU - Yamaguchi, K
AU  - Yamaguchi K
FAU - Kameya, T
AU  - Kameya T
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Endocr Pathol
JT  - Endocrine pathology
JID - 9009288
RN  - 0 (DNA, Neoplasm)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - DNA Mutational Analysis/methods
MH  - DNA, Neoplasm/analysis
MH  - Gene Expression Regulation, Neoplastic/genetics
MH  - *Genes, Tumor Suppressor
MH  - Genetic Predisposition to Disease
MH  - Germ-Line Mutation/*genetics
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Neoplasm Proteins/*genetics
MH  - *Proto-Oncogene Proteins
RF  - 107
EDAT- 2001/12/12 10:00
MHDA- 2002/03/22 10:01
CRDT- 2001/12/12 10:00
PHST- 2001/12/12 10:00 [pubmed]
PHST- 2002/03/22 10:01 [medline]
PHST- 2001/12/12 10:00 [entrez]
AID - EP:12:3:259 [pii]
AID - 10.1385/ep:12:3:259 [doi]
PST - ppublish
SO  - Endocr Pathol. 2001 Fall;12(3):259-73. doi: 10.1385/ep:12:3:259.