PMID- 19068082
OWN - NLM
STAT- MEDLINE
DCOM- 20110426
LR  - 20110331
IS  - 1349-7006 (Electronic)
IS  - 1347-9032 (Linking)
VI  - 100
IP  - 2
DP  - 2009 Feb
TI  - MEN1 gene and its mutations: basic and clinical implications.
PG  - 209-15
LID - 10.1111/j.1349-7006.2008.01034.x [doi]
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 pituitary, parathyroid, and enteropancreatic 
      tumors. Various mutations have been identified throughout the entire gene region 
      in patients with MEN1 and related disorders. Neither mutation hot spot nor 
      phenotype-genotype correlation has been established in MEN1 although some 
      missense mutations may be specifically associated with a phenotype of familial 
      isolated hyperparathyroidism. The gene product menin has been implicated in 
      multiple roles, including gene transcription, maintenance of genomic integrity, 
      and control of cell division and differentiation. These multiple functions are 
      likely to be conferred by association with multiple protein factors. Occurrence 
      of MEN1-causing missense mutations throughout menin also suggests the requirement 
      of multiple binding factors for its full tumor-suppressive activity. The effect 
      of menin depletion is highly tissue specific, but its underlying mechanism 
      remains to be elucidated. A DNA test for MEN1 germline mutations is a useful tool 
      for diagnosis of MEN1 although it needs further improvements
FAU - Tsukada, Toshihiko
AU  - Tsukada T
AD  - Tumor Endocrinology Project, National Cancer Center Research Institute, 5-1-1 
      Tsukiji, Chuo-ku, Tokyo, Japan. ttsukada@ncc.go.jp
FAU - Nagamura, Yuko
AU  - Nagamura Y
FAU - Ohkura, Naganari
AU  - Ohkura N
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - England
TA  - Cancer Sci
JT  - Cancer science
JID - 101168776
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/*genetics/pathology
MH  - Mutation/*genetics
MH  - Phenotype
MH  - Proto-Oncogene Proteins/*genetics
EDAT- 2008/12/11 09:00
MHDA- 2011/04/27 06:00
CRDT- 2008/12/11 09:00
PHST- 2008/12/11 09:00 [pubmed]
PHST- 2011/04/27 06:00 [medline]
PHST- 2008/12/11 09:00 [entrez]
AID - CAS1034 [pii]
AID - 10.1111/j.1349-7006.2008.01034.x [doi]
PST - ppublish
SO  - Cancer Sci. 2009 Feb;100(2):209-15. doi: 10.1111/j.1349-7006.2008.01034.x.