PMID- 9510467
OWN - NLM
STAT- MEDLINE
DCOM- 19980401
LR  - 20190512
IS  - 0910-5050 (Print)
IS  - 1876-4673 (Electronic)
IS  - 0910-5050 (Linking)
VI  - 89
IP  - 1
DP  - 1998 Jan
TI  - A large germline deletion of the MEN1 gene in a family with multiple endocrine 
      neoplasia type 1.
PG  - 1-5
AB  - Multiple endocrine neoplasia type 1 (MEN1) is a familial cancer syndrome 
      inherited as an autosomal dominant trait. Various heterozygous germline mutations 
      of the responsible gene, MEN1, have been identified within its exons in many, but 
      not all, affected individuals. We here demonstrate, by DNA polymorphism analysis 
      and gene dosage analysis with polymerase chain reaction (PCR), a large 
      heterozygous germline MEN1 deletion in a kindred with MEN1, in whom no mutation 
      could be detected in the PCR-amplified exons. The deletion spanned an at least 7 
      kb region containing the entire MEN1 gene. These findings indicate that a large 
      germline deletion of the MEN1 gene, which escapes detection in PCR-based sequence 
      analysis, should be considered as a potential cause of MEN1.
FAU - Kishi, M
AU  - Kishi M
AD  - Growth Factor Division, National Cancer Center Research Institute, Tokyo.
FAU - Tsukada, T
AU  - Tsukada T
FAU - Shimizu, S
AU  - Shimizu S
FAU - Futami, H
AU  - Futami H
FAU - Ito, Y
AU  - Ito Y
FAU - Kanbe, M
AU  - Kanbe M
FAU - Obara, T
AU  - Obara T
FAU - Yamaguchi, K
AU  - Yamaguchi K
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Japan
TA  - Jpn J Cancer Res
JT  - Japanese journal of cancer research : Gann
JID - 8509412
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Chromosome Deletion
MH  - Female
MH  - *Gene Deletion
MH  - Gene Dosage
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Neoplasm Proteins/*genetics
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - *Proto-Oncogene Proteins
PMC - PMC5921582
EDAT- 1998/03/24 00:00
MHDA- 1998/03/24 00:01
PMCR- 1998/01/01
CRDT- 1998/03/24 00:00
PHST- 1998/03/24 00:00 [pubmed]
PHST- 1998/03/24 00:01 [medline]
PHST- 1998/03/24 00:00 [entrez]
PHST- 1998/01/01 00:00 [pmc-release]
AID - S0910505097834011 [pii]
AID - CAE1 [pii]
AID - 10.1111/j.1349-7006.1998.tb00470.x [doi]
PST - ppublish
SO  - Jpn J Cancer Res. 1998 Jan;89(1):1-5. doi: 10.1111/j.1349-7006.1998.tb00470.x.