title: Absence of microsatellite instability and germline mutations of E-cadherin, APC and p53 genes in Japanese familial gastric cancer.
abstract: To evaluate the genetic factors of familial predisposition to gastric cancer, genetic alterations in the surgically resected stomach samples from gastric-cancer-prone families were investigated. Familial gastric cancer (FGC) was defined as gastric cancer occurring in a family with 3 or more gastric cancer patients over at least two successive generations. We examined replication error (RER) of six microsatellite markers and screened mutations of the 10-(A) repeat sequence in the transforming growth factor-beta receptor type II (TGF-betaRII) gene in individuals from seven unrelated FGC families. Three cases showed RER at one of the six (CA)n microsatellite markers but the other 4 cases showed no RER at any of these loci. No mutation was found in the 10-(A) repeat of the TGF-betaRII gene. Additionally, no germline mutation was found by polymerase chain reaction-single strand conformation polymorphism in exons 1-16 of E-cadherin, exons 5-8 of p53 and in the mutation cluster region of APC. These results indicate that disorders in the DNA mismatch repair system, E-cadherin, p53 and APC may be infrequently involved in the carcinogenesis of Japanese FGC.
authors.affiliation: First Department of Internal Medicine, Sapporo Medical University, Sapporo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Kusano
authors.forename: H
authors.initials: H
authors.lastname: Kakiuchi
authors.forename: M
authors.initials: M
authors.lastname: Mihara
authors.forename: F
authors.initials: F
authors.lastname: Itoh
authors.forename: Y
authors.initials: Y
authors.lastname: Adachi
authors.forename: M
authors.initials: M
authors.lastname: Ohara
authors.forename: M
authors.initials: M
authors.lastname: Hosokawa
authors.forename: K
authors.initials: K
authors.lastname: Imai
mesh_terms: D025601:Adenomatous Polyposis Coli Protein; D000328:Adult; D000368:Aged; D015820:Cadherins / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007564:Japan; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics; D013274:Stomach Neoplasms / Q000208:ethnology / Q000235:genetics*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D025601:Adenomatous Polyposis Coli Protein; D015820:Cadherins; D003598:Cytoskeletal Proteins; D009363:Neoplasm Proteins; D018125:Receptors, Transforming Growth Factor beta; D016159:Tumor Suppressor Protein p53; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II