Article
A model to infer the pathogenic significance of CDH1 germline missense variants.
Journal of molecular medicine (Berlin, Germany) - 1 Dec 2006
Suriano Gianpaolo, Seixas Susana, Rocha Jorge, Seruca Raquel
Abstract excerpt
Germline mutations of the E-cadherin gene (CDH1) are involved in the tumorigenesis of hereditary diffuse gastric cancer (HDGC). Recent studies have highlighted the lifesaving potential of total prophylactic gastrectomy for CDH1 germline mutation carriers. In this regard, CDH1 germline mutations of the missense type represent a clinical burden in genetic counseling, as their pathogenic relevance is not...
Topics
- Alleles
- Antigens, CD
- Cadherins
- Case-Control Studies
- Computer Simulation
- Exons
- Gene Frequency
- Genetic Variation
- Germ-Line Mutation
- Heterozygote
- Humans
- Models, Genetic