1. Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review
- Author
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Mariarosaria Calvello, Manuela Bottoni, Maria Sofia Fernandes, Gabriella Pravettoni, Cristina Trovato, Giulia Massari, Nicola Fusco, Francesca De Lorenzi, Giovanni Corso, Joao Sanches, Bernardo Bonanni, Raquel Seruca, Uberto Fumagalli Romario, Susana Seixas, Elena Guerini-Rocco, Carlo La Vecchia, Anna Rotili, Giacomo Montagna, Serena Petrocchi, Franco Roviello, Viviana Galimberti, Joana Figueiredo, Francesca Magnoni, and Instituto de Investigação e Inovação em Saúde
- Subjects
0301 basic medicine ,Oncology ,Cancer Research ,medicine.medical_specialty ,Lobular Breast Carcinoma ,Context (language use) ,Review ,lcsh:RC254-282 ,Germline ,CDH1 ,03 medical and health sciences ,0302 clinical medicine ,Germline mutation ,Breast cancer ,breast cancer ,Internal medicine ,medicine ,Hereditary syndrome ,Prophylactic surgery ,Family history ,Germline mutations ,biology ,business.industry ,gastric cancer ,Cancer ,E-cadherin ,lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,medicine.disease ,hereditary syndrome ,prophylactic surgery ,030104 developmental biology ,030220 oncology & carcinogenesis ,biology.protein ,germline mutations ,business ,Gastric cancer ,CDH1 gene - 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). This manuscript was supported by the Italian Ministry of Health (Project Code GR-2016-02361655) and was partially supported by the Ricerca Corrente and 5 × 1000 funds.
- Published
- 2020