Familiar gastric cancer

• Autor(a) principal: Rodrigues, Patricia Fernandes Dias de Madureira
• Data de Publicação: 2009
• Outros Autores: Calado, António Herculano Moreira, Oliveira, Carla, Sousa, João António Pinto de, Pimenta, Amadeu Pinto de Araújo
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://revista.spcir.com/index.php/spcir/article/view/228

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.