Germline mutations of E-cadherin gene in Korean familial gastric cancer patients

摘要: Gastric cancer is the most common in Korea. Germline mutations of E-cadherin gene have recently been identified familial gastric patients. We screened five Korean patients to investigate germline gene. These fulfilled following criteria: presence at least two within first-degree relatives and one patient diagnosed before age 50 years. Abnormal band patterns were found exons 6 10 by polymerase chain reaction-single strand conformation polymorphism analysis (probands from SNU-G2 SNU-G1001 families, respectively). DNA sequencing these revealed missense each exon. The proband harbored a mutation aspartic acid (GAT) glycine (GGT) codon 244 exon gene, had valine (GTG) alanine (GCG) 487 10. was with 38; three brothers sisters died under 50, their mother 63. 42 brother 49. In summary, we screened.