Absence of microsatellite instability and germline mutations of E-cadherin, APC and p53 genes in Japanese familial gastric cancer

To evaluate the genetic factors of familial predisposition to gastric cance r, genetic alterations in the surgically resected stomach samples from gast ric-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 repli cation error(RER) of six microsatellite markers and screened mutations of t he 10-(A) repeat sequence in the transforming growth factor-p receptor type II ( TGF-beta RII gene in individuals from seven unrelated FGC families. T hree cases showed RER at one of the six (CA)n microsatellite markers but th e other 4 cases showed no RER at any of these loci. No mutation was found i n the 10-(A) repeat of the TGF-beta RII gene. Additionally, no germline mut ation was found by polymerase chain reaction-single strand conformation pol ymorphism 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 mi smatch repair system, E-cadherin, p53 and APC may be infrequently involved in the carcinogenesis of Japanese FGC, Copyright (C) 2001 S. Karger AG, Bas el.