PMID- 11058905
OWN - NLM
STAT- MEDLINE
DCOM- 20001121
LR  - 20061115
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 16
IP  - 5
DP  - 2000 Nov
TI  - Six novel MEN1 gene mutations in sporadic parathyroid tumors.
PG  - 445
AB  - We report nine mutations of the multiple endocrine neoplasia type 1 (MEN1) gene 
      in sporadic parathyroid adenomas. Six of them have not previously been described: 
      E60X, P32R, 261delA, 934+2T-->G, S443P, and 1593insC. The tissue samples were 
      initially submitted to LOH analysis at 11q13 followed by SSCP screening of 
      LOH-positive samples. Mutations were identified by direct sequencing and 
      subcloning. Three (E60X, P32R, and 261delA) were in exon 2, one (934+2bp) in the 
      splice junction of exon 5, one (S443P) in exon 9, and one (1593insC) in exon 10. 
      The 3 mutations in exon 2 were associated with loss and/or creation of a 
      restriction site. The corresponding germline sequence of the MEN1 gene was 
      normal. Most mutations would likely result in a nonfunctional menin protein, and 
      therefore in the loss of a tumor suppressor protein.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Cetani, F
AU  - Cetani F
AD  - Dipartimento di Endocrinologia e Metabolismo, Ortopedia e Traumatologia, Medicina 
      del Lavoro, Universita di Pisa, Pisa, Italy.
FAU - Pardi, E
AU  - Pardi E
FAU - Giovannetti, A
AU  - Giovannetti A
FAU - Cerrai, P
AU  - Cerrai P
FAU - Borsari, S
AU  - Borsari S
FAU - Vignali, E
AU  - Vignali E
FAU - Picone, A
AU  - Picone A
FAU - Cianferotti, L
AU  - Cianferotti L
FAU - Miccoli, P
AU  - Miccoli P
FAU - Pinchera, A
AU  - Pinchera A
FAU - Marcocci, C
AU  - Marcocci C
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adenoma/genetics
MH  - Aged
MH  - Genes, Tumor Suppressor/genetics
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Mutagenesis, Insertional/genetics
MH  - Mutation/*genetics
MH  - Mutation, Missense/genetics
MH  - Neoplasm Proteins/genetics
MH  - Parathyroid Neoplasms/*genetics
MH  - *Proto-Oncogene Proteins
MH  - Sequence Deletion/genetics
EDAT- 2000/11/03 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/11/03 11:00
PHST- 2000/11/03 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/11/03 11:00 [entrez]
AID - 10.1002/1098-1004(200011)16:5<445::AID-HUMU12>3.0.CO;2-6 [pii]
AID - 10.1002/1098-1004(200011)16:5<445::AID-HUMU12>3.0.CO;2-6 [doi]
PST - ppublish
SO  - Hum Mutat. 2000 Nov;16(5):445. doi: 
      10.1002/1098-1004(200011)16:5<445::AID-HUMU12>3.0.CO;2-6.