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Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer

Germline changes in the CDH1 tumor suppressor gene predispose to diffuse gastric cancer and lobular breast cancer. In carriers of deleterious germline CDH1 variants, prophylactic gastrectomy is recommended. In case of germline missense variants, it is mandatory to assess the functional impact on E-c...

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Detalles Bibliográficos
Publicado en:Eur J Hum Genet
Main Authors: Pena-Couso, Laura, Perea, José, Melo, Soraia, Mercadillo, Fátima, Figueiredo, Joana, Sanches, João Miguel, Sánchez-Ruiz, Antonio, Robles, Luis, Seruca, Raquel, Urioste, Miguel
Formato: Artigo
Idioma:Inglês
Publicado: Springer International Publishing 2018
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6117277/
https://ncbi.nlm.nih.gov/pubmed/29769627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0173-8
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