PMID- 10319582
OWN - NLM
STAT- MEDLINE
DCOM- 19990608
LR  - 20061115
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 44
IP  - 3
DP  - 1999
TI  - Germline mutations of E-cadherin gene in Korean familial gastric cancer patients.
PG  - 177-80
AB  - Gastric cancer is the most common cancer in Korea. Germline mutations of the
      E-cadherin gene have recently been identified in familial gastric cancer
      patients. We screened five Korean familial gastric cancer patients to investigate
      germline mutations of the E-cadherin gene. These patients fulfilled the following
      criteria: presence of at least two gastric cancer patients within first-degree
      relatives and one patient diagnosed before the age of 50 years. Abnormal band
      patterns were found in exons 6 and 10 in two familial gastric cancer patients by 
      polymerase chain reaction-single strand conformation polymorphism analysis
      (probands from the SNU-G2 and SNU-G1001 families, respectively). DNA sequencing
      analysis of the E-cadherin gene of these two patients revealed missense mutations
      in each exon. The SNU-G2 proband harbored a missense mutation from aspartic acid 
      (GAT) to glycine (GGT) at codon 244 in exon 6 of the E-cadherin gene, and the
      SNU-G1001 proband had a missense mutation from valine (GTG) to alanine (GCG) at
      codon 487 in exon 10. The SNU-G2 proband was diagnosed with gastric cancer at the
      age of 38; three brothers and two sisters had died of gastric cancer under the
      age of 50, and their mother had died of gastric cancer at the age of 63. The
      SNU-G1001 proband was diagnosed with gastric cancer at the age of 42 and one
      brother had died of gastric cancer at the age of 49. In summary, we found
      germline mutations of the E-cadherin gene in two of five Korean familial gastric 
      cancer patients screened.
FAU - Yoon, K A
AU  - Yoon KA
AD  - Laboratory of Cell Biology, Cancer Research Institute, Seoul National University 
      College of Medicine, Korea.
FAU - Ku, J L
AU  - Ku JL
FAU - Yang, H K
AU  - Yang HK
FAU - Kim, W H
AU  - Kim WH
FAU - Park, S Y
AU  - Park SY
FAU - Park, J G
AU  - Park JG
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (Cadherins)
SB  - IM
MH  - Adenocarcinoma/epidemiology/etiology/*genetics
MH  - Adult
MH  - Cadherins/*genetics
MH  - Cloning, Molecular
MH  - Female
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Korea/epidemiology
MH  - Male
MH  - Middle Aged
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - Sequence Analysis, DNA
MH  - Stomach Neoplasms/epidemiology/etiology/*genetics
EDAT- 1999/05/13 00:00
MHDA- 1999/05/13 00:01
CRDT- 1999/05/13 00:00
PHST- 1999/05/13 00:00 [pubmed]
PHST- 1999/05/13 00:01 [medline]
PHST- 1999/05/13 00:00 [entrez]
AID - 10.1007/s100380050137 [doi]
PST - ppublish
SO  - J Hum Genet. 1999;44(3):177-80. doi: 10.1007/s100380050137.