Clinical spectrum and pleiotropic nature of CDH1 germline mutations

The human CDH1 gene codes for E-cadherin, a cell-cell adhesion molecule that is essential for embryonic development and organization of adult epithelial tissues. Carriers of a CDH1 germline mutation have a lifetime risk of diffuse gastric cancer (DGC) of up to 80% and women have also a probability of 42% of developing lobular breast cancer (LBC). More recently, orofacial clefts and other congenital malformations, such as the Blepharocheilodontic syndrome, were also linked to the occurrence of germline CDH1 mutations.
In this paper, we examined CDH1-associated disorders and provide new insights into the biological mechanisms underlying E-cadherin pleiotropic effects. (By Dr. Joana Figueiredo and Professor Raquel Seruca, https://jmg.bmj.com/content/early/2019/01/19/jmedgenet-2018-105807 )

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