Genetic Profile Analysis of a Patient with Metachronous Gastric Cancer with a Family History of Gastrointestinal Cancers

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-d...

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Main Authors: Chung Min Han, Yuri Hwang, Chan Kyung Kim, Jung Hwan Oh
Format: Article
Language:English
Published: Korean College of Helicobacter and Upper Gastrointestinal Research 2017-12-01
Series:The Korean Journal of Helicobacter and Upper Gastrointestinal Research
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Online Access:http://www.helicojournal.org/journal/view.html?doi=10.7704/kjhugr.2017.17.4.218
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author Chung Min Han
Yuri Hwang
Chan Kyung Kim
Jung Hwan Oh
author_facet Chung Min Han
Yuri Hwang
Chan Kyung Kim
Jung Hwan Oh
author_sort Chung Min Han
collection DOAJ
description 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.
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publisher Korean College of Helicobacter and Upper Gastrointestinal Research
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spelling doaj-art-29a7761bd25447669971615ab01d76ce2025-08-20T02:37:36ZengKorean College of Helicobacter and Upper Gastrointestinal ResearchThe Korean Journal of Helicobacter and Upper Gastrointestinal Research1738-33312017-12-0117421822310.7704/kjhugr.2017.17.4.218kjhugr.2017.17.4.218Genetic Profile Analysis of a Patient with Metachronous Gastric Cancer with a Family History of Gastrointestinal CancersChung Min Han0Yuri Hwang1Chan Kyung Kim2Jung Hwan Oh3Department of Internal Medicine, Han’s Primary Care Clinic, Namyangju, KoreaDepartment of Internal Medicine, Han’s Primary Care Clinic, Namyangju, KoreaNorthern Adelaide Local Health Network, The University of Adelaide, South Australia, AustraliaDepartment of Internal Medicine, St. Paul’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, KoreaA 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.http://www.helicojournal.org/journal/view.html?doi=10.7704/kjhugr.2017.17.4.218GenesMutationStomach neoplasms
spellingShingle Chung Min Han
Yuri Hwang
Chan Kyung Kim
Jung Hwan Oh
Genetic Profile Analysis of a Patient with Metachronous Gastric Cancer with a Family History of Gastrointestinal Cancers
The Korean Journal of Helicobacter and Upper Gastrointestinal Research
Genes
Mutation
Stomach neoplasms
title Genetic Profile Analysis of a Patient with Metachronous Gastric Cancer with a Family History of Gastrointestinal Cancers
title_full Genetic Profile Analysis of a Patient with Metachronous Gastric Cancer with a Family History of Gastrointestinal Cancers
title_fullStr Genetic Profile Analysis of a Patient with Metachronous Gastric Cancer with a Family History of Gastrointestinal Cancers
title_full_unstemmed Genetic Profile Analysis of a Patient with Metachronous Gastric Cancer with a Family History of Gastrointestinal Cancers
title_short Genetic Profile Analysis of a Patient with Metachronous Gastric Cancer with a Family History of Gastrointestinal Cancers
title_sort genetic profile analysis of a patient with metachronous gastric cancer with a family history of gastrointestinal cancers
topic Genes
Mutation
Stomach neoplasms
url http://www.helicojournal.org/journal/view.html?doi=10.7704/kjhugr.2017.17.4.218
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AT chankyungkim geneticprofileanalysisofapatientwithmetachronousgastriccancerwithafamilyhistoryofgastrointestinalcancers
AT junghwanoh geneticprofileanalysisofapatientwithmetachronousgastriccancerwithafamilyhistoryofgastrointestinalcancers