A novel stop codon mutation in exon 5 (c.639G>A) of the cadherin-1 gene in a Vietnamese man with hereditary diffuse gastric cancer: a case report
Abstract Background Germline pathogenic variants in the cadherin-1 (CDH1) gene cause a predisposition to hereditary diffuse gastric cancer (HDGC). We report an HDGC case in Vietnam and identify a novel mutation in the CDH1 gene. Case presentation A 28-year-old Vietnamese man was diagnosed with HDGC...
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| Format: | Article |
| Language: | English |
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BMC
2021-05-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13256-021-02837-y |
| _version_ | 1818676347903410176 |
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| author | Dzung Ngoc Thi Dang Huong Thanh Thi Nguyen Hoa Dieu Ngo Bac Manh Tran Anh Duc Vu Huy Quang Dang Van Thanh Ta |
| author_facet | Dzung Ngoc Thi Dang Huong Thanh Thi Nguyen Hoa Dieu Ngo Bac Manh Tran Anh Duc Vu Huy Quang Dang Van Thanh Ta |
| author_sort | Dzung Ngoc Thi Dang |
| collection | DOAJ |
| description | Abstract Background Germline pathogenic variants in the cadherin-1 (CDH1) gene cause a predisposition to hereditary diffuse gastric cancer (HDGC). We report an HDGC case in Vietnam and identify a novel mutation in the CDH1 gene. Case presentation A 28-year-old Vietnamese man was diagnosed with HDGC and a novel mutation at c.639G>A. All exons of CDH1 were sequenced in his pedigree, which revealed the c.639G>A mutation in the proband, his father, and uncle. The patient refused treatment and died 4 months after diagnosis. Endoscopic surveillance of the father and the uncle showed structural abnormalities in the father. Conclusion In cases of HDGC, identification of the CDH1 gene mutation is very important for better counseling and more effective strategies to prevent the development of diseases, such as prophylactic gastrectomy for family members with genetic mutations. |
| first_indexed | 2024-12-17T08:42:02Z |
| format | Article |
| id | doaj.art-580736accba9465eb96f1873a3b7c2f2 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-12-17T08:42:02Z |
| publishDate | 2021-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-580736accba9465eb96f1873a3b7c2f22022-12-21T21:56:18ZengBMCJournal of Medical Case Reports1752-19472021-05-011511510.1186/s13256-021-02837-yA novel stop codon mutation in exon 5 (c.639G>A) of the cadherin-1 gene in a Vietnamese man with hereditary diffuse gastric cancer: a case reportDzung Ngoc Thi Dang0Huong Thanh Thi Nguyen1Hoa Dieu Ngo2Bac Manh Tran3Anh Duc Vu4Huy Quang Dang5Van Thanh Ta6Biochemistry Department, Hanoi Medical UniversityBiochemistry Department, Hanoi Medical UniversityBiochemistry Department, Hanoi Medical UniversityDepartment of Functional Exploration, National Geriatric HospitalBiochemistry Department, Hanoi Medical UniversityDepartment of Medical Laboratory Science, Faculty of Medical Technology, Hanoi Medical UniversityBiochemistry Department, Hanoi Medical UniversityAbstract Background Germline pathogenic variants in the cadherin-1 (CDH1) gene cause a predisposition to hereditary diffuse gastric cancer (HDGC). We report an HDGC case in Vietnam and identify a novel mutation in the CDH1 gene. Case presentation A 28-year-old Vietnamese man was diagnosed with HDGC and a novel mutation at c.639G>A. All exons of CDH1 were sequenced in his pedigree, which revealed the c.639G>A mutation in the proband, his father, and uncle. The patient refused treatment and died 4 months after diagnosis. Endoscopic surveillance of the father and the uncle showed structural abnormalities in the father. Conclusion In cases of HDGC, identification of the CDH1 gene mutation is very important for better counseling and more effective strategies to prevent the development of diseases, such as prophylactic gastrectomy for family members with genetic mutations.https://doi.org/10.1186/s13256-021-02837-yCase reportCadherin-1Hereditary diffuse gastric cancerC.639G>A |
| spellingShingle | Dzung Ngoc Thi Dang Huong Thanh Thi Nguyen Hoa Dieu Ngo Bac Manh Tran Anh Duc Vu Huy Quang Dang Van Thanh Ta A novel stop codon mutation in exon 5 (c.639G>A) of the cadherin-1 gene in a Vietnamese man with hereditary diffuse gastric cancer: a case report Journal of Medical Case Reports Case report Cadherin-1 Hereditary diffuse gastric cancer C.639G>A |
| title | A novel stop codon mutation in exon 5 (c.639G>A) of the cadherin-1 gene in a Vietnamese man with hereditary diffuse gastric cancer: a case report |
| title_full | A novel stop codon mutation in exon 5 (c.639G>A) of the cadherin-1 gene in a Vietnamese man with hereditary diffuse gastric cancer: a case report |
| title_fullStr | A novel stop codon mutation in exon 5 (c.639G>A) of the cadherin-1 gene in a Vietnamese man with hereditary diffuse gastric cancer: a case report |
| title_full_unstemmed | A novel stop codon mutation in exon 5 (c.639G>A) of the cadherin-1 gene in a Vietnamese man with hereditary diffuse gastric cancer: a case report |
| title_short | A novel stop codon mutation in exon 5 (c.639G>A) of the cadherin-1 gene in a Vietnamese man with hereditary diffuse gastric cancer: a case report |
| title_sort | novel stop codon mutation in exon 5 c 639g a of the cadherin 1 gene in a vietnamese man with hereditary diffuse gastric cancer a case report |
| topic | Case report Cadherin-1 Hereditary diffuse gastric cancer C.639G>A |
| url | https://doi.org/10.1186/s13256-021-02837-y |
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