PMID- 12791038
OWN - NLM
STAT- MEDLINE
DCOM- 20040218
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 64
IP  - 1
DP  - 2003 Jul
TI  - Germline mutations of the MEN1 gene in Korean families with multiple endocrine 
      neoplasia type 1 (MEN1) or MEN1-related disorders.
PG  - 48-53
AB  - Multiple endocrine neoplasia type 1 (MEN1) is a familial cancer syndrome 
      characterized by the combined occurrence of tumours of the parathyroid glands, 
      pancreatic islet cells and anterior pituitary gland. Mutation analysis of the 
      MEN1 gene has enabled the genetic diagnosis of patients with MEN1. Two 
      MEN1-related disorders - familial isolated hyperparathyroidism (FIHP) and 
      familial pituitary adenoma - are considered to be variants of MEN1, or at least 
      to be incompletely expressed variants. Germline mutations of the MEN1 gene have 
      been reported in some with FIHP, but familial pituitary adenoma usually lacks the 
      MEN1 mutation and has been described as a genetically distinct disorder. In this 
      work, we investigated five Korean families with MEN1, one family with FIHP and 
      one family with familial pituitary adenoma. Polymerase chain reaction (PCR)-based 
      single-strand conformation polymorphism (PCR-SSCP) analysis, denaturing 
      high-performance liquid chromatography (DHPLC) and sequencing were used to detect 
      the MEN1 mutations. Screening of the genetic variations of the MEN1 gene revealed 
      four germline mutations in five typical MEN1 families. All four germline 
      mutations led to truncated proteins or a change in the amino acids of the 
      functional domains. In this study, we identified three novel MEN1 germline 
      mutations (969C >A, 973G >C and 1213C >T) and one previously reported mutation 
      (200-201insAGCCC). The frequency of the MEN1 germline mutation in Korean MEN1 
      families (four of five; 80%) was similar to those reported previously. In 
      accordance with previous studies, no MEN1 germline mutation was detected in two 
      families with FIHP or familial pituitary adenoma.
FAU - Park, J-H
AU  - Park JH
AD  - Korean Hereditary Tumor Registry, Laboratory of Cell Biology, Cancer Research 
      Center and Cancer Research Institute, Seoul National University, Seoul, Korea.
FAU - Kim, I-J
AU  - Kim IJ
FAU - Kang, H C
AU  - Kang HC
FAU - Lee, S-H
AU  - Lee SH
FAU - Shin, Y
AU  - Shin Y
FAU - Kim, K-H
AU  - Kim KH
FAU - Lim, S-B
AU  - Lim SB
FAU - Kang, S-B
AU  - Kang SB
FAU - Lee, Ku
AU  - Lee K
FAU - Kim, S Y
AU  - Kim SY
FAU - Lee, M-S
AU  - Lee MS
FAU - Lee, M-K
AU  - Lee MK
FAU - Park, J-H
AU  - Park JH
FAU - Moon, S-D
AU  - Moon SD
FAU - Park, J-G
AU  - Park JG
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - DNA Mutational Analysis
MH  - Female
MH  - Humans
MH  - Hyperparathyroidism/genetics
MH  - Korea
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Mutation
MH  - Pedigree
MH  - Prolactinoma/genetics
MH  - Proto-Oncogene Proteins/*genetics
EDAT- 2003/06/07 05:00
MHDA- 2004/02/19 05:00
CRDT- 2003/06/07 05:00
PHST- 2003/06/07 05:00 [pubmed]
PHST- 2004/02/19 05:00 [medline]
PHST- 2003/06/07 05:00 [entrez]
AID - 091 [pii]
AID - 10.1034/j.1399-0004.2003.00091.x [doi]
PST - ppublish
SO  - Clin Genet. 2003 Jul;64(1):48-53. doi: 10.1034/j.1399-0004.2003.00091.x.