Mutations in components of the Wnt signaling pathway in gastric cancer

World J Gastroenterol. 2008 Mar 14;14(10):1570-4. doi: 10.3748/wjg.14.1570.


Aim: To explore the contribution of AXIN1, AXIN2 and beta-catenin, components of Wnt signaling pathway, to the carcinogenesis of gastric cancer (GC), we examined AXIN1, AXIN2 exon7 and CTNNB1 (encoding beta-catenin) exon3 mutations in 70 GCs.

Methods: The presence of mutations was identified by polymerase chain reaction (PCR)-based denaturing high-performance liquid chromatography and direct DNA sequencing. Beta-catenin expression was detected by immunohistochemical analysis.

Results: Among the 70 GCs, 5 (7.1%) had mutations in one or two of these three components. A frameshift mutation (1 bp deletion) in exon7 of AXIN2 was found in one case. Four cases, including the case with a mutation in AXIN2, had frameshift mutations and missense mutations in AXIN1. Five single nucleotide polymorphisms (SNPs), 334 C>T, 874 C>T, 1396 G>A, 1690 C>T and 1942 T>G, were identified in AXIN1. A frameshift mutation (27 bp deletion) spanning exon3 of CTNNB1 was observed in one case. All four cases with mutations in AXIN1 and AXIN2 showed nuclear beta-catenin expression.

Conclusion: These data indicate that the mutations in AXIN1 and AXIN2 may contribute to gastric carcino-genesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Axin Protein
  • Case-Control Studies
  • Cytoskeletal Proteins / genetics
  • Exons / genetics
  • Female
  • Frameshift Mutation / genetics
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Male
  • Mutation / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Repressor Proteins / genetics
  • Signal Transduction / genetics*
  • Stomach Neoplasms / genetics*
  • Wnt Proteins / genetics*
  • beta Catenin / genetics


  • AXIN1 protein, human
  • AXIN2 protein, human
  • Axin Protein
  • CTNNB1 protein, human
  • Cytoskeletal Proteins
  • Repressor Proteins
  • Wnt Proteins
  • beta Catenin