Genetic Predisposition and Hereditary Syndromes

  • Ana Carolina Ribeiro Chaves de Gouvea
  • Andrea Clemente Baptista Silva
  • Carolina Ribeiro Victor
  • Elizabeth Zambrano Mendoza
  • Mirella Nardo
  • Rodrigo Santa Cruz Guindalini


Hereditary diffuse gastric cancer (GC) is a syndrome with autosomal dominant inheritance related to germline mutations in the CDH1 gene (CDH1-calcium-dependent adhesion protein) leading to changes in the expression of the E-cadherin protein. This syndrome has a high cumulative lifetime risk of developing diffuse gastric and lobular breast carcinomas. Patients who meet the clinical criteria for the syndrome and their relatives should be tested. When a genetic test is positive for a pathogenic variant, the patient should be strongly advised to consider prophylactic gastrectomy. Total gastrectomy for these patients dramatically reduces their risk of GC development. For mutation carriers for whom surgery is not an option, annual standardized endoscopic surveillance is recommended, but it is not as effective as prophylactic gastrectomy. Breast cancer screening is recommended starting at 30 years of age with annual breast magnetic resonance imaging. Prophylactic mastectomy is not routinely recommended, and surgical management should be discussed on a case-by-case basis depending on family history.


Hereditary diffuse gastric cancer CDH1 Mutation Genetic counseling E-cadherin Surveillance 


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© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Ana Carolina Ribeiro Chaves de Gouvea
    • 1
  • Andrea Clemente Baptista Silva
    • 2
  • Carolina Ribeiro Victor
    • 2
  • Elizabeth Zambrano Mendoza
    • 2
  • Mirella Nardo
    • 2
  • Rodrigo Santa Cruz Guindalini
    • 3
    • 4
  1. 1.Centro de Oncologia Hospital Alemao Oswaldo CruzSão PauloBrazil
  2. 2.Faculdade de Medicina da Universidade de São Paulo/Instituto do Câncer do Estado de São PauloSão PauloBrazil
  3. 3.Centro de Investigação Translacional em Oncologia, Instituto do Câncer do Estado de São Paulo, Faculdade de Medicina da Universidade de São PauloSão PauloBrazil
  4. 4.CLION, CAM GroupSalvadorBrazil

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