PMID- 18045958
OWN - NLM
STAT- MEDLINE
DCOM- 20080225
LR  - 20071129
IS  - 1351-0088 (Print)
IS  - 1351-0088 (Linking)
VI  - 14
IP  - 4
DP  - 2007 Dec
TI  - MEN1 mutation analysis in Chinese patients with multiple endocrine neoplasia type 
      1.
PG  - 1073-9
AB  - Multiple endocrine neoplasia type 1 (MEN1) is an inherited tumour syndrome 
      characterized by the development of tumours of the parathyroid, anterior 
      pituitary and pancreatic islets, etc. Heterozygous germ line mutations of MEN1 
      gene are responsible for the onset of MEN1. We investigated the probands and 31 
      family members from eight unrelated Chinese families associated with MEN1 and 
      identified four novel mutations, namely 373_374ins18, 822delT, 259delT and 
      1092delC, as well as three previously reported mutations, such as 357_360delCTGT, 
      427_428delTA and R108X (CGA>TGA) of MEN1 gene. Furthermore, we detected a loss of 
      heterozygosity (LOH) at chromosome 11q in the removed tumours, including 
      gastrinoma, insulinoma and parathyroid adenoma from two probands of MEN1 
      families. RT-PCR and direct sequencing showed that mutant MEN1 transcripts 
      remained in the MEN1-associated endocrine tumours, whereas normal menin proteins 
      could not be detected in those tumours by either immunohistochemistry or 
      immunoblotting. In conclusion, MEN1 heterozygous mutations are associated with 
      LOH and menin absence, which are present in MEN1-associated endocrine tumours.
FAU - Jiang, Xiao-Hua
AU  - Jiang XH
AD  - Shanghai Clinical Center for Endocrine and Metabolic Diseases,, Shanghai 
      Institute of Endocrinology and Metabolism and Chinese-French Laboratory of 
      Genomics and Life Sciences, Ruijin Hospital, Shanghai Jiaotong University School 
      of Medicine, China.
FAU - Lu, Jie-Li
AU  - Lu JL
FAU - Cui, Bin
AU  - Cui B
FAU - Zhao, Yong-Ju
AU  - Zhao YJ
FAU - Wang, Wei-qing
AU  - Wang WQ
FAU - Liu, Jian-Min
AU  - Liu JM
FAU - Fang, Wen-Qiang
AU  - Fang WQ
FAU - Cao, Ya-Nan
AU  - Cao YN
FAU - Ge, Yan
AU  - Ge Y
FAU - Zhang, Chang-xian
AU  - Zhang CX
FAU - Casse, Huguette
AU  - Casse H
FAU - Li, Xiao-Ying
AU  - Li XY
FAU - Ning, Guang
AU  - Ning G
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Endocr Relat Cancer
JT  - Endocrine-related cancer
JID - 9436481
RN  - 0 (DNA Transposable Elements)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Peptide Fragments)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Amino Acid Sequence
MH  - China
MH  - DNA Mutational Analysis
MH  - DNA Transposable Elements
MH  - Family
MH  - Female
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - *Mutation
MH  - Peptide Fragments
MH  - Proto-Oncogene Proteins/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sequence Deletion
EDAT- 2007/11/30 09:00
MHDA- 2008/02/26 09:00
CRDT- 2007/11/30 09:00
PHST- 2007/11/30 09:00 [pubmed]
PHST- 2008/02/26 09:00 [medline]
PHST- 2007/11/30 09:00 [entrez]
AID - 14/4/1073 [pii]
AID - 10.1677/ERC-07-0015 [doi]
PST - ppublish
SO  - Endocr Relat Cancer. 2007 Dec;14(4):1073-9. doi: 10.1677/ERC-07-0015.