Article
CDH1 Missense Variant c.1679C>G (p.T560R) Completely Disrupts Normal Splicing through Creation of a Novel 5' Splice Site.
PloS one - 1 Jan 2016
Yelskaya Zarina, Bacares Ruben, Salo-Mullen Erin, Somar Joshua, Lehrich Deborah A, Fasaye Grace-Ann, Coit Daniel G, Tang Laura H, Stadler Zsofia K, Zhang Liying
Abstract excerpt
Disease-causing germline mutations in CDH1 cause Hereditary Diffuse Gastric Cancer (HDGC). For patients who meet the HDGC screening criteria, the identification and classification of the sequence variants found in CDH1 are critical for risk management of patients. In this report, we describe a germline CDH1 c.1679C>G (p.T560R) variant identified in a 50 year old man who was diagnosed with gastric cancer with a...
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