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Familial Cancer

, Volume 12, Issue 3, pp 503–507 | Cite as

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
Original Article

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.

Keywords

CDH1 Diffuse gastric cancer E-cadherin Korean Signet ring cell 

Notes

Acknowledgments

This study was supported by a faculty research grand of Gachon University, Gil Medical Center for 2010.

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer Science+Business Media Dordrecht 2012

Authors and Affiliations

  • Sollip Kim
    • 1
  • Jun-Won Chung
    • 2
  • Tae-Dong Jeong
    • 3
  • Young-Soo Park
    • 4
  • Jeong Hoon Lee
    • 5
  • Ji Yong Ahn
    • 5
  • Do Hoon Kim
    • 5
  • Kee Don Choi
    • 5
  • Woochang Lee
    • 3
  • Ho June Song
    • 5
  • Gin Hyug Lee
    • 5
  • Sail Chun
    • 3
  • Hwoon-Yong Jung
    • 5
  • Won-Ki Min
    • 3
  • Jin-Ho Kim
    • 5
  1. 1.Department of Laboratory MedicineInje University College of Medicine, Ilsan Paik HospitalGoyangSouth Korea
  2. 2.Department of Internal MedicineGil Medical Center, Gachon Graduate School of MedicineInchonSouth Korea
  3. 3.Department of Laboratory MedicineUniversity of Ulsan College of Medicine and Asan Medical CenterSeoulSouth Korea
  4. 4.Department of PathologyUniversity of Ulsan College of Medicine and Asan Medical CenterSeoulSouth Korea
  5. 5.Department of GastroenterologyUniversity of Ulsan College of Medicine and Asan Medical CenterrSeoulSouth Korea

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