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Germline cdh1 g212e missense variant: Combining clinical, in vitro and in vivo ...
Figueiredo, J; Mercadillo, F; Melo, S; Barroso, A; Gonçalves, M; Díaz-Tasende, J; Carneiro, P; Robles, L; Colina, F; Ibarrola, C; Perea, JE-cadherin, encoded by CDH1, is an essential molecule for epithelial homeostasis, whose loss or aberrant expression results in disturbed cell–cell adhesion, increased cell invasion and metas-tasis. Carriers of CDH1 germline mutations have a high risk of developing diffuse gastric cancer and lobular breast cancer, associated with the cancer syndrome Hereditary Diffuse Gastric Cancer (HDGC). The ubiquitous availa...
Date: 2021
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Origin: Repositório Aberto da Universidade do Porto