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 germline CDH1 c.48 G>C variant found in a 21 year old woman and her living great uncle, who were both diagnosed with...
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