Searching for E-cadherin gene mutations in early onset diffuse gastric cancer and hereditary diffuse gastric cancer in Korean patients

Sollip Kim, Jun Won Chung, Tae Dong Jeong, Young Soo Park, Jeong Hoon Lee, Ji Yong Ahn, Do Hoon Kim, Kee Don Choi, Woochang Lee, Ho June Song, Gin Hyug Lee, Sail Chun, Hwoon Yong Jung, Won Ki Min, Jin Ho Kim

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

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.

Original languageEnglish
Pages (from-to)503-507
Number of pages5
JournalFamilial Cancer
Volume12
Issue number3
DOIs
StatePublished - Sep 2013

Keywords

  • CDH1
  • Diffuse gastric cancer
  • E-cadherin
  • Korean
  • Signet ring cell

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