Article
Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer.
International journal of molecular sciences - 12 Dec 2017
Melo Soraia, Figueiredo Joana, Fernandes Maria Sofia, Gonçalves Margarida, Morais-de-Sá Eurico, Sanches João Miguel, Seruca Raquel
Abstract excerpt
The role of E-cadherin in Hereditary Diffuse Gastric Cancer (HDGC) is unequivocal. Germline alterations in its encoding gene (CDH1) are causative of HDGC and occur in about 40% of patients. Importantly, while in most cases CDH1 alterations result in the complete loss of E-cadherin associated with...
Topics
- Antigens, CD
- Cadherins
- Cell Adhesion
- Cell Movement
- Genetic Counseling
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Heterozygote
- Humans
- Mutation, Missense
- Stomach Neoplasms