E-cadherin gene mutations in signet ring cell carcinoma of the stomach

Hiromi Muta, Masayuki Noguchi, Yae Kanai, Atsushi Ochiai, Hajime Nawata, Setsuo Hirohashi

Research output: Contribution to journalArticlepeer-review

122 Citations (Scopus)


To clarify the significance of E-cadherin gene alterations in the development of diffuse-type adenocarcinoma of the stomach, we analyzed mutations of the E-cadherin gene using the polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) method followed by direct sequencing. Twenty-two signet ring cell carcinomas of the stomach (10 intramucosal and 12 advanced cancers) were examined. Genomic DNA was extracted separately from cancerous and non-cancerous tissues and PCR-SSCP analysis was performed on exons 5 to 9 and the adjacent 30- to 40 base pair intron sequences of the E-cadherin gene. Mobility shifts were found in 2 of the 10 intramucosal cancers. In 2 of the 12 advanced cancers, abnormalities of the E-cadherin gene were observed in intramucosal lesions as well as in deeply invaded areas. These results indicated that E-cadherin gene mutations are an early event in the development of signet ring cell carcinoma of the stomach. Direct sequencing revealed that the locations of mutations of the E-cadherin gene included the branch point sequence in the intron which is responsible for RNA splicing. Reverse transcriptase-PCR demonstrated aberrant RNA splicing in a case with a branch point mutation, suggesting that branch point mutations play an important role in functional modifications of E-cadherin in signet ring cell carcinoma of the stomach.

Original languageEnglish
Pages (from-to)843-848
Number of pages6
JournalJapanese Journal of Cancer Research
Issue number8
Publication statusPublished - 1996 Aug
Externally publishedYes


  • E-cadherin
  • Gene mutation
  • Signet ring cell carcinoma
  • Stomach cancer

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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