|
KMID : 0624620110440110725
|
|
BMB Reports
2011 Volume.44 No. 11 p.725 ~ p.729
|
|
|
Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma
|
|
Kim Sol-Lip
Ki Chang-Seok
Kim Kyoung-Mee
Lee Myoung-Gun
Kim Se-Hwa
Bae Jae-Moon
Kim Jong-Won
|
|
|
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.
|
|
|
KEYWORD
|
|
|
CDH1, E-cadherin, Hereditary diffuse gastric cancer, Signet ring cell carcinoma, Splicing mutation
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|