Article
Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer.
International journal of molecular sciences - 12 Dec 2017
Melo Soraia, Figueiredo Joana, Fernandes Maria Sofia, Gonçalves Margarida, Morais-de-Sá Eurico, Sanches João Miguel, Seruca Raquel
Abstract excerpt
The role of E-cadherin in Hereditary Diffuse Gastric Cancer (HDGC) is unequivocal. Germline alterations in its encoding gene (CDH1) are causative of HDGC and occur in about 40% of patients. Importantly, while in most cases CDH1 alterations result in the complete loss of E-cadherin associated with a well-established clinical impact, in about 20% of cases the mutations are of the missense type. The latter are of...
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