| Genetic Profile Analysis of a Patient with Metachronous Gastric Cancer with a Family History of Gastrointestinal Cancers |
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Chung Min Han, Yuri Hwang, Chan Kyung Kim, Jung Hwan Oh |
1Department of Internal Medicine, Han's Primary Care Clinic1, Namyangju, Korea.
2Northern Adelaide Local Health Network, The University of Adelaide, South Australia, Australia.
3Department of Internal Medicine, St. Paul's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea. ojh@catholic.ac.kr |
| 위장관 종양의 가족력을 가진 재발성 위암 환자에서 유전자검사를 시행한 1예 |
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한충민1, 황유리1, 김찬경2, 오정환3 |
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한내과의원1, 애들레이드 의과대학2, 가톨릭대학교 의과대학 성바오로병원 내과학교실3 |
Correspondence:
Jung Hwan Oh,
Email: ojh@catholic.ac.kr
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Received: 17 May 2017 • Revised: 17 May 2017 • Accepted: 9 June 2017 |
| Abstract |
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A 67-year-old man underwent two endoscopic submucosal dissection procedures, one for gastric adenoma and one for early gastric cancer. The follow-up endoscopy showed metachronous recurrence at the anterior wall of the lower body, for which he underwent a subtotal gastrectomy. Four first- or second-degree relatives in his family have been diagnosed with gastric or colon cancers. The patient underwent counseling and genetic testing to identify single nucleotide polymorphisms and indel variants for 31 genes by next generation sequencing. Five missense mutations were identified, one each in ATM, BRIP1, and EPCAM and two in BRCA2. These genetic alterations may be candidates for genetic causes of this familial cluster of gastric cancer. This study identified genes that, for the first time, can be potentially associated with an increased risk of familial gastric cancer among the Korean population. These results may be helpful in evaluating other genetic factors related to the etiology of gastric cancer. |
| Key Words:
Genes; Mutation; Stomach neoplasms |
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