Article
Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene.
Human mutation - 1 Feb 2007
More H, Humar B, Weber W, Ward R, Christian A, Lintott C, Graziano F, Ruzzo A-M, Acosta E, Boman B, Harlan M, Ferreira P, Seruca R, Suriano G, Guilford P
Abstract excerpt
Hereditary diffuse gastric cancer (HDGC) is a cancer predisposition syndrome caused by germline mutation of the gene encoding the tumour-suppressor E-cadherin (CDH1). We describe the search for CDH1 mutations in 36 new diffuse gastric cancer families. All 16 CDH1 exons, neighbouring intronic sequ...
Topics
- Adult
- Aged
- Antigens, CD
- Cadherins
- Codon, Nonsense
- DNA Mutational Analysis
- Exons
- Female
- Genetic Predisposition to Disease
- Genetic Testing
- Germ-Line Mutation
- Humans
- Male
- Middle Aged
- Mutation, Missense