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- 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.
- Authors
Dang, Dzung Ngoc Thi; Nguyen, Huong Thanh Thi; Ngo, Hoa Dieu; Tran, Bac Manh; Vu, Anh Duc; Dang, Huy Quang; Ta, Van Thanh
- Abstract
<bold>Background: </bold>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.<bold>Case Presentation: </bold>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.<bold>Conclusion: </bold>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.
- Subjects
VIETNAM; STOMACH cancer; PREVENTIVE medicine; VIETNAMESE people; GENETIC mutation; GENES; STOMACH tumors; GLYCOPROTEINS; DISEASE susceptibility; GENETIC techniques; GENEALOGY
- Publication
Journal of Medical Case Reports, 2021, Vol 15, Issue 1, p1
- ISSN
1752-1947
- Publication type
journal article
- DOI
10.1186/s13256-021-02837-y