PMID- 9735087
OWN - NLM
STAT- MEDLINE
DCOM- 19980910
LR  - 20220409
IS  - 0003-4819 (Print)
IS  - 0003-4819 (Linking)
VI  - 129
IP  - 6
DP  - 1998 Sep 15
TI  - Multiple endocrine neoplasia type 1: clinical and genetic topics.
PG  - 484-94
AB  - Multiple endocrine neoplasia type 1 (MEN1) consists of benign, and sometimes 
      malignant, tumors (often multiple in a tissue) of the parathyroids, 
      enteropancreatic neuroendocrine system, anterior pituitary, and other tissues. 
      Skin angiofibromas and skin collagenomas are common. Typically, MEN1 tumors begin 
      two decades earlier than sporadic tumors. Because of tumor multiplicity and the 
      tendency for postoperative tumor recurrence, specialized methods have been 
      developed for preoperative and intraoperative localization of many 
      MEN1-associated tumors. The MEN1 gene was recently isolated by positional 
      cloning. This strategy progressively narrows the size of the candidate MEN1 gene 
      interval on the chromosome and then finds and tests many or, if needed, all genes 
      within that interval. The MEN1 gene was finally identified because it was the one 
      gene that contained mutations in most DNAs from a test panel of MEN1 cases. It 
      has been suggested that MEN1, like many hereditary cancer syndromes, is caused by 
      mutation in a tumor suppressor gene that contributes to neoplasia when both gene 
      copies in a tumor precursor cell have been sequentially inactivated ("two-hit" 
      oncogenesis mechanism). Germline MEN1 mutations were found in most families with 
      MEN1 and in most cases of sporadic MEN1. In addition, the MEN1 gene was the gene 
      most likely to show acquired mutation in several sporadic or nonhereditary 
      tumors-parathyroid adenomas, gastrinomas, insulinomas, and bronchial carcinoids. 
      Most germline or acquired MEN1 mutations predicted truncation (and thus likely 
      inactivation) of the encoded protein, supporting expectations for the "first hit" 
      to a tumor suppressor gene. Testing for MEN1 germline mutation is possible in a 
      research setting. Candidates for MEN1 mutation testing include patients with MEN1 
      or its phenocopies and first-degree relatives of persons with MEN1.
FAU - Marx, S
AU  - Marx S
AD  - National Institutes of Health, Bethesda, MD 20892, USA.
FAU - Spiegel, A M
AU  - Spiegel AM
FAU - Skarulis, M C
AU  - Skarulis MC
FAU - Doppman, J L
AU  - Doppman JL
FAU - Collins, F S
AU  - Collins FS
FAU - Liotta, L A
AU  - Liotta LA
LA  - eng
PT  - Consensus Development Conference
PT  - Consensus Development Conference, NIH
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Ann Intern Med
JT  - Annals of internal medicine
JID - 0372351
SB  - IM
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 11
MH  - Genes, Tumor Suppressor/physiology
MH  - Genetic Linkage
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics
MH  - Mutation
MH  - Oncogenes/physiology
MH  - Pedigree
RF  - 60
EDAT- 1998/09/12 00:00
MHDA- 1998/09/12 00:01
CRDT- 1998/09/12 00:00
PHST- 1998/09/12 00:00 [pubmed]
PHST- 1998/09/12 00:01 [medline]
PHST- 1998/09/12 00:00 [entrez]
AID - 10.7326/0003-4819-129-6-199809150-00011 [doi]
PST - ppublish
SO  - Ann Intern Med. 1998 Sep 15;129(6):484-94. doi: 
      10.7326/0003-4819-129-6-199809150-00011.