Article
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 - 4 May 2021
Dang Dzung Ngoc Thi, Nguyen Huong Thanh Thi, Ngo Hoa Dieu, Tran Bac Manh, Vu Anh Duc, Dang Huy Quang, Ta Van Thanh
Abstract excerpt
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...
Topics
- Adult
- Asian People
- Cadherins
- Codon, Terminator
- Exons
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Humans
- Male
- Mutation
- Pedigree