Resumo

MARCOS, Pedro  e  SOUSA, J. Pinto de. Hereditary diffuse gastric cancer: rational basis for prophylactic total gastrectomy. Arq Med [online]. 2013, vol.27, n.5, pp.203-211. ISSN 2183-2447.

Most cases of gastric carcinoma are sporadic and familial aggregation is observed in only 10% of patients. Of those with familial aggregation 1%-3% are diagnosed with Hereditary Diffuse Gastric Cancer, which is a syndrome with an autosomal dominant pattern of inheritance, attributable to germline mutations in the CDH1/E-cadherin gene. The rate of detection of this mutation in families who meet the clinical criteria for this cancer is only 25-50%, while in other cases the genetic cause remains unknown. CDH1 mutation carriers have a risk of developing diffuse gastric cancer throughout life greater than 80%; the women are also at increased risk for lobular breast cancer and some data suggest an increased risk of colon cancer in families with this syndrome. The genetic screening is essential for identifying high-risk families and patients. in the absence of a suitable method for surveillance, the recommended treatment for asymptomatic carriers of CDH1 germline mutation seems to be the prophylactic/therapeutic total gastrectomy. This work aims to make known diagnostic criteria and the genetic and biological bases of Hereditary Diffuse Gastric Cancer, as well as to review and to disclose the most important aspects to take into account in clinical and therapeutic approach of this disease, with special emphasis on performance in patients CDH1 mutation carriers.

Palavras-chave : Gastric Carcinoma; Hereditary Diffuse Gastric Cancer; E-Cadherin; CDH1; Lobular Breast Cancer; Total Gastrectomy.

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