Familiar gastric cancer

  • Patricia Fernandes Dias de Madureira Rodrigues Estudante de Medicina, Faculdade de Medicina da Universidade do Porto, Portugal
  • António Herculano Moreira Calado Mestre em Medicina, Faculdade de Medicina do Porto; Assistente Hospitalar de Cirurgia Geral do Hospital de S. João, Portugal
  • Carla Oliveira Doutoramento em Biologia Humana, Faculdade de Medicina da Universidade do Porto; Investigadora do IPATIMUP; Professora Afiliada da Faculdade de Medicina da Universidade do Porto, Portugal
  • João António Pinto de Sousa Professor Auxiliar Convidado de Cirurgia com Agregação, Faculdade de Medicina do Porto; Assistente Hospitalar Graduado de Cirurgia Geral do Hospital de S. João, Portugal
  • Amadeu Pinto de Araújo Pimenta Professor Catedrático da Faculdade de Medicina da Universidade do Porto; Director do Serviço de Cirurgia Geral do Hospital de S.João, Portugal

Abstract

Gastric carcinoma shows familial clustering in 10% of the cases. In those families, the association between patterns of inheritance, the histopathological presentation of the tumours and the different models of carcinogenesis was analyzed, which culminated in the definition of a new entity, the Hereditary Diffuse Gastric Cancer. This syndrome has an autosomal dominant pattern of inheritance and is specifically associated with E-cadherin/CDH1 gene germline mutations in about one third of families displaying aggregation of diffuse gastric cancer. Mutation carriers have a 70% lifetime risk of developing diffuse gastric cancer, which is highly lethal, and female carriers have a 40% risk of developing lobular carcinoma of the breast. In this article, the current concepts and recent progress on the categorization, diagnostic approach and therapeutic intervention in Hereditary Diffuse Gastric Cancer are reviewed, highlighting the most relevant topics in clinical practice. Furthermore, the most controversial or challenging issues on this subject are discussed, namely the etiopathogenesis and the management of the other cases of familial aggregation.

Keywords: gastric cancer; familial gastric cancer; E-cadherin; CDH1; hereditary diffuse gastric cancer; lobular carcinoma of the breast. 

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Published
2009-03-26
How to Cite
RODRIGUES, Patricia Fernandes Dias de Madureira et al. Familiar gastric cancer. Revista Portuguesa de Cirurgia, [S.l.], n. 8, p. 11-24, mar. 2009. ISSN 2183-1165. Available at: <https://revista.spcir.com/index.php/spcir/article/view/228>. Date accessed: 22 june 2024.
Section
Review Article