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Familial Cancer
Published in: Familial Cancer 3/2013

01-09-2013 | Original Article

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

Authors: 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

Published in: Familial Cancer | Issue 3/2013

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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.
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Metadata
Title
Searching for E-cadherin gene mutations in early onset diffuse gastric cancer and hereditary diffuse gastric cancer in Korean patients
Authors
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
Publication date
01-09-2013
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 3/2013
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-012-9595-6

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