Searching for E-cadherin gene mutations in early onset diffuse gastric cancer and hereditary diffuse gastric cancer in K
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ORIGINAL ARTICLE
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
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Ó Springer Science+Business Media Dordrecht 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.
Sollip Kim and Jun-Won Chung contributed equally to this work.
Keywords CDH1 Diffuse gastric cancer E-cadherin Korean Signet ring cell
S. Kim Department of Laboratory Medicine, Inje University College of Medicine, Ilsan Paik Hospital, Goyang, South Korea
Introduction
J.-W. Chung Department of Internal Medicine, Gil Medical Center, Gachon Graduate School of Medicine, Inchon, South Korea T.-D. Jeong W. Lee (&) S. Chun W.-K. Min Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, 88 Olympic-ro 43-gil, Songpa-gu, Seoul 138-736, South Korea e-mail: [email protected] Y.-S. Park Department of Pathology, University of Ulsan College of Medicine and Asan Medical Center, Seoul, South Korea J. H. Lee J. Y. Ahn D. H. Kim K. D. Choi H. J. Song G. H. Lee H.-Y. Jung (&) J.-H. Kim Department of Gastroenterology, University of Ulsan College of Medicine and Asan Medical Centerr, 88 Olympic-ro 43-gil, Songpa-gu, Seoul 138-736, South Korea e-mail: [email protected]
Gastric cancer is the fourth most common cancer and the second leading cause of cancer-related death worldwide [1]. The majority of gastric cancers are sporadic, but family clustering is observed in 20–30 % of cases [2, 3]. Of these, only 1–3 % of cases are hereditary [4]. Inherit
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