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Korean Society for Biochemistry and Molecular Biology (생화학분자생물학회)
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Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma

  • Kim, Sol-Lip (Department of Laboratory Medicine, Ilsan Paik Hospital, Inje University College of Medicine) ;
  • Ki, Chang-Seok (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Kyoung-Mee (Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Myoung-Gun (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Se-Hwa (Department of Health Science and Technology, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Bae, Jae-Moon (Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Jong-Won (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • Received : 2011.04.18
  • Accepted : 2011.08.09
  • Published : 2011.11.30
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Abstract

We report a novel mechanism of a CDH1 splicing mutation in a patient with signet ring cell carcinoma of the stomach. A 27-year-old man complaining of aggravated dyspepsia was diagnosed with signet ring cell carcinoma. Both his father and uncle had died of stomach cancer at a young age. DNA sequencing analysis of the CDH1 gene revealed a splice site mutation (c.833-2A>G). By RNA/cDNA sequencing analysis, CDH1 c.833-2A>G generated a new acceptor site within intron 6, causing the insertion of a 79-bp intronic sequence between exon 6 and 7 (r.833-79_833-1ins), and resulting in a frame shift. E-cadherin immunohistochemical staining revealed a loss of CDH1 expression. This study reveals the disease-causing mechanism of this splicing mutation, and emphasizes the need for functional studies using RNA samples for the accurate interpretation of detected splicing variant. This is the first reported case of a CDH1 mutation in a Korean patient.

Keywords

References

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