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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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Bibliografski detalji
Izdano u:Eur J Hum Genet
Glavni autori: Pena-Couso, Laura, Perea, José, Melo, Soraia, Mercadillo, Fátima, Figueiredo, Joana, Sanches, João Miguel, Sánchez-Ruiz, Antonio, Robles, Luis, Seruca, Raquel, Urioste, Miguel
Format: Artigo
Jezik:Inglês
Izdano: Springer International Publishing 2018
Teme:
Online pristup: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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