PMID- 9215690
OWN - NLM
STAT- MEDLINE
DCOM- 19970828
LR  - 20190512
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 6
IP  - 7
DP  - 1997 Jul
TI  - Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The 
      European Consortium on MEN1.
PG  - 1177-83
AB  - Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder 
      characterised by tumours of the parathyroids, pancreas and anterior pituitary 
      that represents one of the familial cancer syndromes. The MEN1 locus has been 
      previously localised to chromosome 11q13, and a <300 kb gene-rich region flanked 
      centromerically by PYGM and telomerically by D11S1783 defined by combined meiotic 
      and tumour deletion mapping studies. Two candidate genes, ZFM1 and PPP2R5B, from 
      this region have been previously excluded, and in order to identify additional 
      candidate genes we used a BAC to isolate cDNAs from a bovine parathyroid cDNA 
      library by direct selection. One of the novel genes that we identified, SCG2, 
      proved to be identical to the recently published MEN1 gene, which is likely to be 
      a tumour suppressor gene. The SCG2 transcript was 2.9 kb in all tissues with an 
      additional 4.2 kb transcript also being present in the pancreas and thymus. 
      Mutational analysis of SCG2 in 10 unrelated MEN1 families identified one 
      polymorphism and nine different heterozygous mutations (one missense, four 
      non-sense, one insertional and three deletional frameshifts) that segregated with 
      the disease, hence providing an independent confirmation for the identification 
      of the MEN1 gene.
FAU - Lemmens, I
AU  - Lemmens I
AD  - Laboratory for Molecular Oncology and Flanders Interuniversity Institute for 
      Biotechnology, Center for Human Genetics, KU Leuven, Belgium.
FAU - Van de Ven, W J
AU  - Van de Ven WJ
FAU - Kas, K
AU  - Kas K
FAU - Zhang, C X
AU  - Zhang CX
FAU - Giraud, S
AU  - Giraud S
FAU - Wautot, V
AU  - Wautot V
FAU - Buisson, N
AU  - Buisson N
FAU - De Witte, K
AU  - De Witte K
FAU - Salandre, J
AU  - Salandre J
FAU - Lenoir, G
AU  - Lenoir G
FAU - Pugeat, M
AU  - Pugeat M
FAU - Calender, A
AU  - Calender A
FAU - Parente, F
AU  - Parente F
FAU - Quincey, D
AU  - Quincey D
FAU - Gaudray, P
AU  - Gaudray P
FAU - De Wit, M J
AU  - De Wit MJ
FAU - Lips, C J
AU  - Lips CJ
FAU - Hoppener, J W
AU  - Hoppener JW
FAU - Khodaei, S
AU  - Khodaei S
FAU - Grant, A L
AU  - Grant AL
FAU - Weber, G
AU  - Weber G
FAU - Kytola, S
AU  - Kytola S
FAU - Teh, B T
AU  - Teh BT
FAU - Farnebo, F
AU  - Farnebo F
FAU - Thakker, R V
AU  - Thakker RV
AU  - et al.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (DNA, Complementary)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Animals
MH  - Cattle
MH  - Chromosomes, Bacterial
MH  - Cloning, Molecular
MH  - Cosmids
MH  - DNA Mutational Analysis
MH  - DNA, Complementary
MH  - Female
MH  - Gene Library
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - *Mutation
MH  - Neoplasm Proteins/*genetics
MH  - *Proto-Oncogene Proteins
EDAT- 1997/07/01 00:00
MHDA- 1997/07/01 00:01
CRDT- 1997/07/01 00:00
PHST- 1997/07/01 00:00 [pubmed]
PHST- 1997/07/01 00:01 [medline]
PHST- 1997/07/01 00:00 [entrez]
AID - 10.1093/hmg/6.7.1177 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1997 Jul;6(7):1177-83. doi: 10.1093/hmg/6.7.1177.