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

Content Provider	Springer Nature Link
Author	Kim, Sollip Chung, Jun Won Jeong, Tae Dong Park, Young Soo Lee, Jeong Hoon Ahn, Ji Yong Kim, Do Hoon Choi, Kee Don Lee, Woochang Song, Ho June Lee, Gin Hyug Chun, Sail Jung, Hwoon Yong Min, Won Ki Kim, Jin Ho
Copyright Year	2012
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.
Starting Page	503
Ending Page	507
Page Count	5
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	12
Issue Number	3
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2012-12-21
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	CDH1 Diffuse gastric cancer E-cadherin Korean Signet ring cell Cancer Research Human Genetics Epidemiology Biomedicine general
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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