E-cadherin gene variants in gastric cancer families whose probands are diagnosed with diffuse gastric cancer.
作者： Tomonori Yabuta , Kazuya Shinmura , Masachika Tani , Satoru Yamaguchi , Kimio Yoshimura
DOI: 10.1002/IJC.10633
关键词:
摘要: To identify germline E-cadherin mutations responsible for the predisposition to diffuse gastric cancer (DGC) among Japanese, we screened 17 patients with familial aggregation of by sequencing analysis. All were diagnosed DGC and had at least 1 sibling cancer. Two novel gene variants detected. One was detected in patient only associated an amino acid substitution (Val/Met) codon 832 region essential binding beta-catenin. The M832 variant not proband but also 2 other family. Immunohistochemical analysis tissue from revealed that expression markedly reduced beta-catenin cells. However, no significant difference activity between V832 wild-type immunofluorescence immunoprecipitation/Western blot analyses. 5 located splice donor site (IVS1+6T/C); however, RT-PCR indicated IVS+6C did cause aberrant splicing. Thus, could be a mutation causative DGC, although further functional studies are needed understand pathogenic significance this variant.
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