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Revista Española de Enfermedades Digestivas
versión impresa ISSN 1130-0108
HERRAIZ, Maite et al. Hereditary diffuse gastric cancer: strategies to reduce tumoral risk. Rev. esp. enferm. dig. [online]. 2012, vol.104, n.6, pp.326-329. ISSN 1130-0108. http://dx.doi.org/10.4321/S1130-01082012000600009.
The main goal at a High-Risk Gastrointestinal Cancer Clinic is to identify individuals at increased risk of developing tumors for diagnosis them in presymptomatic stages, when they are potentially curable. We report an asymptomatic patient belonging to a family with hereditary diffuse gastric cancer syndrome with a novel pathogenic mutation in the E-cadherin gene. In the absence of any proven diagnostic tool in surveillance tumor of this syndrome, the recommendation accepted today for an asymptomatic individual with known mutation is to perform prophylactic surgery. This patient underwent total laparoscopic gastrectomy. A microscopic focus of tumor was detected in the surgical specimen. Strategies to reduce the tumor risk in the hereditary diffuse gastric cancer syndrome are limited, but it is necessary to recognize them in order to treat these patients accordingly to the available evidence.
Palabras clave : Hereditary cancer; Gastric cancer; Hereditary gastric cancer; Prophylactic gastrectomy; E-cadherin; CDH1.