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Geographical distribution of e-cadherin germline mutations in the context of di...

Corso, G; Corso, F; Bellerba, F; Carneiro, P; Seixas, S; Cioffi, A; La Vecchia, C; Magnoni, F; Bonanni, B; Veronesi, P; Gandini, S; Figueiredo, J

Hereditary diffuse gastric cancer (HDGC) is a complex and multifactorial inherited cancer predisposition syndrome caused by CDH1 germline mutations. Nevertheless, current CDH1 genetic screening recommendations disregard an unbalanced worldwide distribution of CDH1 variants, impacting testing efficacy and patient management. In this systematic review, we collected and analyzed all studies describing CDH1 variant...


Hereditary gastric and breast cancer syndromes related to CDH1 germline mutatio...

Corso, G; Montagna, G; Figueiredo, J; Vecchia, CL; Romario, UF; Fernandes, MS; Seixas, S; Roviello, F; Trovato, C; Guerini-Rocco, E; Fusco, N

E-cadherin (CDH1 gene) germline mutations are associated with the development of diffuse gastric cancer in the context of the so-called hereditary diffuse gastric syndrome, and with an inherited predisposition of lobular breast carcinoma. In 2019, the international gastric cancer linkage consortium revised the clinical criteria and established guidelines for the genetic screening of CDH1 germline syndromes. Nev...


E-cadherin deregulation in breast cancer

Corso, G; Figueiredo, J; Angelis, SP; Corso, F; Girardi, A; Pereira, J; Seruca, R; Bonanni, B; Carneiro, P; Pravettoni, G; Guerini Rocco, E; Veronesi, P

E-cadherin protein (CDH1 gene) integrity is fundamental to the process of epithelial polarization and differentiation. Deregulation of the E-cadherin function plays a crucial role in breast cancer metastases, with worse prognosis and shorter overall survival. In this narrative review, we describe the inactivating mechanisms underlying CDH1 gene activity and its possible translation to clinical practice as a pro...


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