title: Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma.
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.
authors: Department of Laboratory Medicine, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Korea.
authors: Sollip
authors: S
authors: Kim
authors: Chang Seok
authors: CS
authors: Ki
authors: Kyoung-Mee
authors: KM
authors: Kim
authors: Myoung-Gun
authors: MG
authors: Lee
authors: Sehwa
authors: S
authors: Kim
authors: Jae-Moon
authors: JM
authors: Bae
authors: Jong-Won
authors: JW
authors: Kim
mesh_terms: D000328:Adult; D015703:Antigens, CD; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D015820:Cadherins / Q000235:genetics*; D018279:Carcinoma, Signet Ring Cell / Q000235:genetics* / Q000473:pathology; D019295:Computational Biology; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012326:RNA Splicing / Q000235:genetics*; D056910:Republic of Korea; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins; D018076:DNA, Complementary