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).

Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: A multidisciplinary clinical review / G. Corso, G. Montagna, J. Figueiredo, C. La Vecchia, U.F. Romario, M.S. Fernandes, S. Seixas, F. Roviello, C. Trovato, E. Guerini-Rocco, N. Fusco, G. Pravettoni, S. Petrocchi, A. Rotili, G. Massari, F. Magnoni, F. De Lorenzi, M. Bottoni, V. Galimberti, J.M. Sanches, M. Calvello, R. Seruca, B. Bonanni. - In: CANCERS. - ISSN 2072-6694. - 12:6(2020 Jun). [10.3390/cancers12061598]

Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: A multidisciplinary clinical review

Corso G.;La Vecchia C.;Trovato C.;Guerini-Rocco E.;Fusco N.;Pravettoni G.;Massari G.;Galimberti V.;Calvello M.;
2020-06

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).
Breast cancer; CDH1 gene; E-cadherin; Gastric cancer; Germline mutations; Hereditary syndrome; Prophylactic surgery
Settore MED/18 - Chirurgia Generale
Settore MED/08 - Anatomia Patologica
Settore M-PSI/01 - Psicologia Generale
CANCERS
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/758115
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