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

Giovanni Corso, Giacomo Montagna, Joana Figueiredo, Carlo La Vecchia, Uberto Fumagalli Romario, Maria Sofia Fernandes, Susana Seixas, Franco Roviello, Cristina Trovato, Elena Guerini-Rocco, Nicola Fusco, Gabriella Pravettoni, Serena Petrocchi, Anna Rotili, Giulia Massari, Francesca Magnoni, Francesca De Lorenzi, Manuela Bottoni, Viviana Galimberti, João Miguel SanchesMariarosaria Calvello, Raquel Seruca, Bernardo Bonanni

Research output: Contribution to journalReview articlepeer-review


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).

Original languageEnglish
Article number1598
Pages (from-to)1-25
Number of pages25
Issue number6
Publication statusPublished - Jun 2020


  • Breast cancer
  • CDH1 gene
  • E-cadherin
  • Gastric cancer
  • Germline mutations
  • Hereditary syndrome
  • Prophylactic surgery

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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