Article
CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.
Genes - 3 Apr 2020
Selvanathan Arthavan, Nixon Cheng Yee, Zhu Ying, Scietti Luigi, Forneris Federico, Uribe Lina M Moreno, Lidral Andrew C, Jezewski Peter A, Mulliken John B, Murray Jeffrey C, Buckley Michael F, Cox Timothy C, Roscioli Tony
Abstract excerpt
Pathogenic variants in CDH1, encoding epithelial cadherin (E-cadherin), have been implicated in hereditary diffuse gastric cancer (HDGC), lobular breast cancer, and both syndromic and non-syndromic cleft lip/palate (CL/P). Despite the large number of CDH1 mutations described, the nature of the phenotypic consequence of such mutations is currently not able to be predicted, creating significant challenges for...
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