Article
The germline CDH1 c.48 G>C substitution contributes to cancer predisposition through generation of a pro-invasive mutation.
Mutation research - 1 Dec 2014
Zhang Liying, Xiao Alexander, Ruggeri Jeanine, Bacares Ruben, Somar Joshua, Melo Soraia, Figueiredo Joana, Simões-Correia Joana, Seruca Raquel, Shah Manish A
Abstract excerpt
Mutation screening of CDH1 is a standard of care for patients who meet criteria for Hereditary Diffuse Gastric Cancer (HDGC). In this setting, the classification of the sequence variants found in CDH1 is a critical step for risk management of patients with HDGC. In this report, we describe a germ...
Topics
- Amino Acid Substitution
- Animals
- Antigens, CD
- CHO Cells
- Cadherins
- Cricetinae
- Cricetulus
- Female
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Glutamic Acid