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 ge...
Topics
- Alleles
- Antigens, CD
- Base Sequence
- Cadherins
- DNA Mutational Analysis
- Exons
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Humans
- Male
- Middle Aged
- Pedigree
- RNA Splice Sites
- RNA Splicing
- Sequence Deletion