title: Hereditary diffuse gastric cancer in a Japanese family with a large deletion involving CDH1.
abstract: Hereditary diffuse gastric cancer (HDGC), characterized by susceptibility to gastric signet ring cell carcinomas (SRCCs) and caused by CDH1 germline mutations, is rare in the Japanese. We present here a Japanese family with HDGC identified by comparative genomic hybridization (CGH) analysis. A 55-year-old woman was treated with completion gastrectomy for multiple SRCCs, and pathological examination revealed approximately 200 foci of SRCC with loss of E-cadherin expression. Her 30-year-old son had surveillance endoscopy and was found to have multiple SRCCs. He underwent total gastrectomy, and 32 foci of SRCC with loss of E-cadherin expression were histologically found. Although no point mutations were detected in CDH1 by sequencing, CGH revealed a 275-kb deletion involving exons 7-16 of CDH1 in both patients. While only a few HDGCs have been reported in East Asia, patients with multiple SRCC may need to be offered appropriate genetic counseling and testing in this area.
authors.affiliation: Endoscopy Division, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Yamada
authors.forename: Takeo
authors.initials: T
authors.lastname: Fukagawa
authors.forename: Takeshi
authors.initials: T
authors.lastname: Nakajima
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Asada
authors.forename: Shigeki
authors.initials: S
authors.lastname: Sekine
authors.forename: Satoshi
authors.initials: S
authors.lastname: Yamashita
authors.forename: Eriko
authors.initials: E
authors.lastname: Okochi-Takada
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Taniguchi
authors.forename: Ryoji
authors.initials: R
authors.lastname: Kushima
authors.forename: Ichiro
authors.initials: I
authors.lastname: Oda
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Saito
authors.forename: Toshikazu
authors.initials: T
authors.lastname: Ushijima
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Katai
mesh_terms: D000328:Adult; D015703:Antigens, CD; D044466:Asian People / Q000235:genetics; D015820:Cadherins / Q000235:genetics* / Q000378:metabolism; D018279:Carcinoma, Signet Ring Cell / Q000235:genetics / Q000473:pathology / Q000601:surgery; D005260:Female; D005743:Gastrectomy; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D017384:Sequence Deletion; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery
chemical_list: D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins
references.citation: Oncogene. 2013 Apr 25;32(17):2140-9
references.pmid: 22689052
references.citation: Nature. 1998 Mar 26;392(6674):402-5
references.pmid: 9537325
references.citation: J Med Genet. 1999 Dec;36(12):873-80
references.pmid: 10593993
references.citation: J Clin Pathol. 2008 Jan;61(1):25-30
references.pmid: 17513507
references.citation: Cancer Sci. 2011 Oct;102(10):1782-8
references.pmid: 21777349
references.citation: Gut. 2000 Aug;47(2):262-7
references.pmid: 10896919
references.citation: J Med Genet. 2010 Jul;47(7):436-44
references.pmid: 20591882
references.citation: Jpn J Clin Oncol. 2003 Jan;33(1):17-20
references.pmid: 12604719
references.citation: Scand J Gastroenterol. 2010 Mar;45(3):357-61
references.pmid: 20148732
references.citation: J Surg Oncol. 2005 Jun 1;90(3):114-33; discussion 133
references.pmid: 15895459
references.citation: Hum Mol Genet. 2009 May 1;18(9):1545-55
references.pmid: 19168852
references.citation: EMBO J. 1995 Dec 15;14(24):6107-15
references.pmid: 8557030
references.citation: J Natl Cancer Inst. 2000 Nov 1;92(21):1781-2
references.pmid: 11058622
references.citation: J Pathol. 2012 Sep;228(1):113-8
references.pmid: 22374786