PMID- 19904212
OWN - NLM
STAT- MEDLINE
DCOM- 20100305
LR  - 20220210
IS  - 1530-0366 (Electronic)
IS  - 1098-3600 (Linking)
VI  - 11
IP  - 12
DP  - 2009 Dec
TI  - Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors.
PG  - 825-35
LID - 10.1097/GIM.0b013e3181be5c97 [doi]
AB  - MEN 1 is a rare hereditary cancer syndrome which manifests a variety of endocrine 
      and non-endocrine neoplasms and lesions. Growing knowledge of this condition in 
      both its molecular genetic underpinnings and its clinical implications have 
      affected the entire spectrum of the clinical management of MEN patients. The MEN1 
      gene is a tumor suppressor gene, and mutations in it account for the development 
      of the MEN1 clinical syndrome through impairment of several cell functions, such 
      as cell proliferations, cell growth control, apoptosis, DNA replication and 
      repair, gene expression, transcriptional machinery control, and hormone 
      secretion. Currently, DNA testing makes possible the early identification of 
      germline mutations in asymptomatic mutation carriers. The ever increrasing 
      combination of genetic and clinical tools will allow early detection of 
      MEN1-associated neoplasms, potentially improving clinical outcomes and quality of 
      life for both affected patients and their relatives.
FAU - Falchetti, Alberto
AU  - Falchetti A
AD  - Regional Centre for Hereditary Endocrine Tumors, Unit of Metabolic Bone Diseases, 
      Department of Internal Medicine, University of Florence, Florence, Italy.
FAU - Marini, Francesca
AU  - Marini F
FAU - Luzi, Ettore
AU  - Luzi E
FAU - Giusti, Francesca
AU  - Giusti F
FAU - Cavalli, Loredana
AU  - Cavalli L
FAU - Cavalli, Tiziana
AU  - Cavalli T
FAU - Brandi, Maria Luisa
AU  - Brandi ML
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Genet Med
JT  - Genetics in medicine : official journal of the American College of Medical 
      Genetics
JID - 9815831
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Gastrinoma/complications
MH  - Genotype
MH  - Humans
MH  - Insulinoma/complications
MH  - Multiple Endocrine Neoplasia Type 1/complications/*genetics/*pathology
MH  - *Mutation
MH  - Parathyroid Neoplasms/complications
MH  - Phenotype
MH  - Pituitary Neoplasms/complications
MH  - Proto-Oncogene Proteins/*genetics
RF  - 150
EDAT- 2009/11/12 06:00
MHDA- 2010/03/06 06:00
CRDT- 2009/11/12 06:00
PHST- 2009/11/12 06:00 [entrez]
PHST- 2009/11/12 06:00 [pubmed]
PHST- 2010/03/06 06:00 [medline]
AID - S1098-3600(21)04000-4 [pii]
AID - 10.1097/GIM.0b013e3181be5c97 [doi]
PST - ppublish
SO  - Genet Med. 2009 Dec;11(12):825-35. doi: 10.1097/GIM.0b013e3181be5c97.