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Author(s): Corso, G
Montagna, G
Figueiredo, J
Vecchia, CL
Romario, UF
Fernandes, MS
Seixas, S
Roviello, F
Trovato, C
Guerini-Rocco, E
Fusco, N
Pravettoni, G
Petrocchi, S
Rotili, A
Massari, G
Magnoni, F
Lorenzi, F
Bottoni, M
Galimberti, V
Sanches, JM
Calvello, M
Seruca, R
Bonanni, B
Title: Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: A multidisciplinary clinical review
Publisher: MDPI
Issue Date: 2020
Abstract: 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. Nevertheless, the introduction of multigene panel testing in clinical practice has led to an increased identification of E-cadherin mutations in individuals without a positive family history of gastric or breast cancers. This observation motivated us to review and present a novel multidisciplinary clinical approach (nutritional, surgical, and image screening) for single subjects who present germline CDH1 mutations but do not fulfil the classic clinical criteria, namely those identified as—(1) incidental finding and (2) individuals with lobular breast cancer without family history of gastric cancer (GC).
Subject: Breast cancer
CDH1 gene
Gastric cancer
Germline mutations
Hereditary syndrome
Prophylactic surgery
Source: Cancers, vol.12(6):1598
Document Type: Artigo em Revista Científica Internacional
Rights: openAccess
Appears in Collections:I3S - Artigo em Revista Científica Internacional

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