title: Searching for E-cadherin gene mutations in early onset diffuse gastric cancer and hereditary diffuse gastric cancer in Korean patients.
abstract: The impact of CDH1 gene mutations and large deletions on hereditary diffuse gastric cancer (HDGC) and early onset diffuse gastric cancer (EODGC) has not been determined in Asians. We investigated the mutation status of the CDH1 gene in 25 Korean EODGC patients younger than 50 years and 23 HDGC patients who met the clinical criteria for HDGC. Polymerase chain reaction-direct sequencing was performed, and multiplex ligation-dependent probe amplification (MLPA) was used to evaluate the patients with negative sequencing results. We determined that 2 of 25 (8 %) EODGC patients had CDH1 germline mutations. One was a nonsense mutation (c.1003C>T, p.Arg335*, exon 7) in a 41-year-old female with no family history of cancer. The other was a missense mutation (c.715G>A, p.Gly239Arg, exon 6) in a 28-year-old male with no family history of cancer. One of 23 (4.3 %) HDGC patients had a CDH1 germline mutation (c.1003C>T). The patient's brother and sister died of stomach cancer. The MLPA results revealed no deletion or duplication in any patient. More research is needed to determine additional genetic targets that trigger HDGC. More comprehensive methods such as next-generation sequencing might be a good approach that can be used to identify the genetic causes of pathogenetically unexplained disorders.
authors.affiliation: Department of Laboratory Medicine, Inje University College of Medicine, Ilsan Paik Hospital, Goyang, South Korea.
authors.forename: Sollip
authors.initials: S
authors.lastname: Kim
authors.forename: Jun-Won
authors.initials: JW
authors.lastname: Chung
authors.forename: Tae-Dong
authors.initials: TD
authors.lastname: Jeong
authors.forename: Young-Soo
authors.initials: YS
authors.lastname: Park
authors.forename: Jeong Hoon
authors.initials: JH
authors.lastname: Lee
authors.forename: Ji Yong
authors.initials: JY
authors.lastname: Ahn
authors.forename: Do Hoon
authors.initials: DH
authors.lastname: Kim
authors.forename: Kee Don
authors.initials: KD
authors.lastname: Choi
authors.forename: Woochang
authors.initials: W
authors.lastname: Lee
authors.forename: Ho June
authors.initials: HJ
authors.lastname: Song
authors.forename: Gin Hyug
authors.initials: GH
authors.lastname: Lee
authors.forename: Sail
authors.initials: S
authors.lastname: Chun
authors.forename: Hwoon-Yong
authors.initials: HY
authors.lastname: Jung
authors.forename: Won-Ki
authors.initials: WK
authors.lastname: Min
authors.forename: Jin-Ho
authors.initials: JH
authors.lastname: Kim
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology; D000328:Adult; D015703:Antigens, CD; D015820:Cadherins / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006801:Humans; D007124:Immunoenzyme Techniques; D008297:Male; D009154:Mutation / Q000235:genetics*; D009367:Neoplasm Staging; D011379:Prognosis; D056910:Republic of Korea; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology; D016159:Tumor Suppressor Protein p53 / Q000235:genetics / Q000378:metabolism
chemical_list: D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53